SNP Links for Protein (Select 157419130) - SNP

Select item 14783423081.

rs1478342308 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:112253965 (GRCh38)
6:112575167 (GRCh37)
Canonical SPDI:: NC_000006.12:112253964:A:G
Gene:: LAMA4 (Varview), LAMA4-AS1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.112253965A>G, NC_000006.11:g.112575167A>G, NG_008209.1:g.5662T>C, NM_002290.5:c.186T>C, NM_002290.4:c.186T>C, NM_001105206.3:c.186T>C, NM_001105206.2:c.186T>C, NM_001105207.3:c.186T>C, NM_001105207.2:c.186T>C, NM_001105209.3:c.186T>C, NM_001105209.2:c.186T>C, NM_001105208.3:c.186T>C, NM_001105208.2:c.186T>C, NW_003871062.1:g.251486A>G, XM_005266984.5:c.186T>C, XM_005266984.4:c.186T>C, XM_005266984.3:c.186T>C, XM_005266984.2:c.186T>C, XM_005266984.1:c.186T>C, XM_005266983.5:c.186T>C, XM_005266983.4:c.186T>C, XM_005266983.3:c.186T>C, XM_005266983.2:c.186T>C, XM_005266983.1:c.186T>C, XM_017010854.3:c.186T>C, XM_017010854.2:c.186T>C, XM_017010854.1:c.186T>C, XM_047418769.1:c.186T>C, XM_047418770.1:c.186T>C, XM_047418771.1:c.186T>C

Select item 14514948062.

rs1451494806 has merged into rs782813834 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGA>-,GA,GAGAGA [Show Flanks]
Chromosome:: 6:112253882 (GRCh38)
6:112575084 (GRCh37)
Canonical SPDI:: NC_000006.12:112253873:GAGAGAGAGAGA:GAGAGAGA,NC_000006.12:112253873:GAGAGAGAGAGA:GAGAGAGAGA,NC_000006.12:112253873:GAGAGAGAGAGA:GAGAGAGAGAGAGA
Gene:: LAMA4 (Varview), LAMA4-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGAGAGAGA=0./0 (ALFA)
-=0.000654/76 (ExAC)
-=0.012168/152 (GoESP)
HGVS:: NC_000006.12:g.112253874GA[4], NC_000006.12:g.112253874GA[5], NC_000006.12:g.112253874GA[7], NC_000006.11:g.112575076GA[4], NC_000006.11:g.112575076GA[5], NC_000006.11:g.112575076GA[7], NG_008209.1:g.5742TC[4], NG_008209.1:g.5742TC[5], NG_008209.1:g.5742TC[7], NM_001105209.3:c.274_277del, NM_001105209.3:c.276_277del, NM_001105209.3:c.276_277dup, NM_001105209.2:c.274_277del, NM_001105209.2:c.276_277del, NM_001105209.2:c.276_277dup, NM_001105208.3:c.274_277del, NM_001105208.3:c.276_277del, NM_001105208.3:c.276_277dup, NM_001105208.2:c.274_277del, NM_001105208.2:c.276_277del, NM_001105208.2:c.276_277dup, NW_003871062.1:g.251395GA[4], NW_003871062.1:g.251395GA[5], NW_003871062.1:g.251395GA[7], NP_001098679.1:p.Ser92fs, NP_001098679.1:p.Pro93fs, NP_001098679.1:p.Pro93fs, NP_001098678.1:p.Ser92fs, NP_001098678.1:p.Pro93fs, NP_001098678.1:p.Pro93fs

Select item 14469017753.

rs1446901775 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 6:112254119 (GRCh38)
6:112575321 (GRCh37)
Canonical SPDI:: NC_000006.12:112254118:A:C,NC_000006.12:112254118:A:G
Gene:: LAMA4 (Varview), LAMA4-AS1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.112254119A>C, NC_000006.12:g.112254119A>G, NC_000006.11:g.112575321A>C, NC_000006.11:g.112575321A>G, NG_008209.1:g.5508T>G, NG_008209.1:g.5508T>C, NM_002290.5:c.32T>G, NM_002290.5:c.32T>C, NM_002290.4:c.32T>G, NM_002290.4:c.32T>C, NM_001105206.3:c.32T>G, NM_001105206.3:c.32T>C, NM_001105206.2:c.32T>G, NM_001105206.2:c.32T>C, NM_001105207.3:c.32T>G, NM_001105207.3:c.32T>C, NM_001105207.2:c.32T>G, NM_001105207.2:c.32T>C, NM_001105209.3:c.32T>G, NM_001105209.3:c.32T>C, NM_001105209.2:c.32T>G, NM_001105209.2:c.32T>C, NM_001105208.3:c.32T>G, NM_001105208.3:c.32T>C, NM_001105208.2:c.32T>G, NM_001105208.2:c.32T>C, NW_003871062.1:g.251640A>C, NW_003871062.1:g.251640A>G, XM_005266984.5:c.32T>G, XM_005266984.5:c.32T>C, XM_005266984.4:c.32T>G, XM_005266984.4:c.32T>C, XM_005266984.3:c.32T>G, XM_005266984.3:c.32T>C, XM_005266984.2:c.32T>G, XM_005266984.2:c.32T>C, XM_005266984.1:c.32T>G, XM_005266984.1:c.32T>C, XM_005266983.5:c.32T>G, XM_005266983.5:c.32T>C, XM_005266983.4:c.32T>G, XM_005266983.4:c.32T>C, XM_005266983.3:c.32T>G, XM_005266983.3:c.32T>C, XM_005266983.2:c.32T>G, XM_005266983.2:c.32T>C, XM_005266983.1:c.32T>G, XM_005266983.1:c.32T>C, XM_017010854.3:c.32T>G, XM_017010854.3:c.32T>C, XM_017010854.2:c.32T>G, XM_017010854.2:c.32T>C, XM_017010854.1:c.32T>G, XM_017010854.1:c.32T>C, XM_047418769.1:c.32T>G, XM_047418769.1:c.32T>C, XM_047418770.1:c.32T>G, XM_047418770.1:c.32T>C, XM_047418771.1:c.32T>G, XM_047418771.1:c.32T>C, NP_002281.3:p.Leu11Arg, NP_002281.3:p.Leu11Pro, NP_001098676.2:p.Leu11Arg, NP_001098676.2:p.Leu11Pro, NP_001098677.2:p.Leu11Arg, NP_001098677.2:p.Leu11Pro, NP_001098679.1:p.Leu11Arg, NP_001098679.1:p.Leu11Pro, NP_001098678.1:p.Leu11Arg, NP_001098678.1:p.Leu11Pro, XP_005267041.2:p.Leu11Arg, XP_005267041.2:p.Leu11Pro, XP_005267040.2:p.Leu11Arg, XP_005267040.2:p.Leu11Pro, XP_016866343.1:p.Leu11Arg, XP_016866343.1:p.Leu11Pro, XP_047274725.1:p.Leu11Arg, XP_047274725.1:p.Leu11Pro, XP_047274726.1:p.Leu11Arg, XP_047274726.1:p.Leu11Pro, XP_047274727.1:p.Leu11Arg, XP_047274727.1:p.Leu11Pro

Select item 14446541064.

rs1444654106 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 6:112253803 (GRCh38)
6:112575005 (GRCh37)
Canonical SPDI:: NC_000006.12:112253800:CTCT:CT
Gene:: LAMA4 (Varview), LAMA4-AS1 (Varview)
Functional Consequence:: frameshift_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.112253801CT[1], NC_000006.11:g.112575003CT[1], NG_008209.1:g.5823AG[1], NM_001105209.3:c.349_350del, NM_001105209.2:c.349_350del, NM_001105208.3:c.349_350del, NM_001105208.2:c.349_350del, NW_003871062.1:g.251322CT[1], NP_001098679.1:p.Ser117fs, NP_001098678.1:p.Ser117fs

Select item 14284060635.

rs1428406063 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:112254012 (GRCh38)
6:112575214 (GRCh37)
Canonical SPDI:: NC_000006.12:112254011:G:C
Gene:: LAMA4 (Varview), LAMA4-AS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00001/2 (GnomAD_exomes)
C=0.000023/6 (TOPMED)
HGVS:: NC_000006.12:g.112254012G>C, NC_000006.11:g.112575214G>C, NG_008209.1:g.5615C>G, NM_002290.5:c.139C>G, NM_002290.4:c.139C>G, NM_001105206.3:c.139C>G, NM_001105206.2:c.139C>G, NM_001105207.3:c.139C>G, NM_001105207.2:c.139C>G, NM_001105209.3:c.139C>G, NM_001105209.2:c.139C>G, NM_001105208.3:c.139C>G, NM_001105208.2:c.139C>G, NW_003871062.1:g.251533G>C, XM_005266984.5:c.139C>G, XM_005266984.4:c.139C>G, XM_005266984.3:c.139C>G, XM_005266984.2:c.139C>G, XM_005266984.1:c.139C>G, XM_005266983.5:c.139C>G, XM_005266983.4:c.139C>G, XM_005266983.3:c.139C>G, XM_005266983.2:c.139C>G, XM_005266983.1:c.139C>G, XM_017010854.3:c.139C>G, XM_017010854.2:c.139C>G, XM_017010854.1:c.139C>G, XM_047418769.1:c.139C>G, XM_047418770.1:c.139C>G, XM_047418771.1:c.139C>G, NP_002281.3:p.Pro47Ala, NP_001098676.2:p.Pro47Ala, NP_001098677.2:p.Pro47Ala, NP_001098679.1:p.Pro47Ala, NP_001098678.1:p.Pro47Ala, XP_005267041.2:p.Pro47Ala, XP_005267040.2:p.Pro47Ala, XP_016866343.1:p.Pro47Ala, XP_047274725.1:p.Pro47Ala, XP_047274726.1:p.Pro47Ala, XP_047274727.1:p.Pro47Ala

Select item 14278153766.

rs1427815376 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:112253961 (GRCh38)
6:112575163 (GRCh37)
Canonical SPDI:: NC_000006.12:112253960:C:T
Gene:: LAMA4 (Varview), LAMA4-AS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.112253961C>T, NC_000006.11:g.112575163C>T, NG_008209.1:g.5666G>A, NM_002290.5:c.190G>A, NM_002290.4:c.190G>A, NM_001105206.3:c.190G>A, NM_001105206.2:c.190G>A, NM_001105207.3:c.190G>A, NM_001105207.2:c.190G>A, NM_001105209.3:c.190G>A, NM_001105209.2:c.190G>A, NM_001105208.3:c.190G>A, NM_001105208.2:c.190G>A, NW_003871062.1:g.251482C>T, XM_005266984.5:c.190G>A, XM_005266984.4:c.190G>A, XM_005266984.3:c.190G>A, XM_005266984.2:c.190G>A, XM_005266984.1:c.190G>A, XM_005266983.5:c.190G>A, XM_005266983.4:c.190G>A, XM_005266983.3:c.190G>A, XM_005266983.2:c.190G>A, XM_005266983.1:c.190G>A, XM_017010854.3:c.190G>A, XM_017010854.2:c.190G>A, XM_017010854.1:c.190G>A, XM_047418769.1:c.190G>A, XM_047418770.1:c.190G>A, XM_047418771.1:c.190G>A, NP_002281.3:p.Ala64Thr, NP_001098676.2:p.Ala64Thr, NP_001098677.2:p.Ala64Thr, NP_001098679.1:p.Ala64Thr, NP_001098678.1:p.Ala64Thr, XP_005267041.2:p.Ala64Thr, XP_005267040.2:p.Ala64Thr, XP_016866343.1:p.Ala64Thr, XP_047274725.1:p.Ala64Thr, XP_047274726.1:p.Ala64Thr, XP_047274727.1:p.Ala64Thr

Select item 14213029437.

rs1421302943 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TAGC [Show Flanks]
Chromosome:: 6:112253827 (GRCh38)
6:112575030 (GRCh37)
Canonical SPDI:: NC_000006.12:112253827:CTAGC:CTAGCTAGC
Gene:: LAMA4 (Varview), LAMA4-AS1 (Varview)
Functional Consequence:: inframe_indel,stop_gained,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTAGCTAGC=0./0 (ALFA)
CTAG=0.000008/2 (GnomAD_exomes)
CTAG=0.000019/5 (TOPMED)
CTAG=0.000029/4 (GnomAD)
HGVS:: NC_000006.12:g.112253829_112253832dup, NC_000006.11:g.112575031_112575034dup, NG_008209.1:g.5796_5799dup, NM_001105209.3:c.320_323dup, NM_001105209.2:c.320_323dup, NM_001105208.3:c.320_323dup, NM_001105208.2:c.320_323dup, NW_003871062.1:g.251350_251353dup, NP_001098679.1:p.Arg108delinsSerTer, NP_001098678.1:p.Arg108delinsSerTer

Select item 14033319238.

rs1403331923 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:112254032 (GRCh38)
6:112575234 (GRCh37)
Canonical SPDI:: NC_000006.12:112254031:G:A
Gene:: LAMA4 (Varview), LAMA4-AS1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.112254032G>A, NC_000006.11:g.112575234G>A, NG_008209.1:g.5595C>T, NM_002290.5:c.119C>T, NM_002290.4:c.119C>T, NM_001105206.3:c.119C>T, NM_001105206.2:c.119C>T, NM_001105207.3:c.119C>T, NM_001105207.2:c.119C>T, NM_001105209.3:c.119C>T, NM_001105209.2:c.119C>T, NM_001105208.3:c.119C>T, NM_001105208.2:c.119C>T, NW_003871062.1:g.251553G>A, XM_005266984.5:c.119C>T, XM_005266984.4:c.119C>T, XM_005266984.3:c.119C>T, XM_005266984.2:c.119C>T, XM_005266984.1:c.119C>T, XM_005266983.5:c.119C>T, XM_005266983.4:c.119C>T, XM_005266983.3:c.119C>T, XM_005266983.2:c.119C>T, XM_005266983.1:c.119C>T, XM_017010854.3:c.119C>T, XM_017010854.2:c.119C>T, XM_017010854.1:c.119C>T, XM_047418769.1:c.119C>T, XM_047418770.1:c.119C>T, XM_047418771.1:c.119C>T, NP_002281.3:p.Ser40Leu, NP_001098676.2:p.Ser40Leu, NP_001098677.2:p.Ser40Leu, NP_001098679.1:p.Ser40Leu, NP_001098678.1:p.Ser40Leu, XP_005267041.2:p.Ser40Leu, XP_005267040.2:p.Ser40Leu, XP_016866343.1:p.Ser40Leu, XP_047274725.1:p.Ser40Leu, XP_047274726.1:p.Ser40Leu, XP_047274727.1:p.Ser40Leu

Select item 14016120219.

rs1401612021 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:112253938 (GRCh38)
6:112575140 (GRCh37)
Canonical SPDI:: NC_000006.12:112253937:A:G
Gene:: LAMA4 (Varview), LAMA4-AS1 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.112253938A>G, NC_000006.11:g.112575140A>G, NG_008209.1:g.5689T>C, NM_001105209.3:c.213T>C, NM_001105209.2:c.213T>C, NM_001105208.3:c.213T>C, NM_001105208.2:c.213T>C, NW_003871062.1:g.251459A>G

Select item 139863308110.

rs1398633081 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:112253941 (GRCh38)
6:112575143 (GRCh37)
Canonical SPDI:: NC_000006.12:112253940:G:T
Gene:: LAMA4 (Varview), LAMA4-AS1 (Varview)
Functional Consequence:: intron_variant,stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000009/2 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
T=0.000034/9 (TOPMED)
HGVS:: NC_000006.12:g.112253941G>T, NC_000006.11:g.112575143G>T, NG_008209.1:g.5686C>A, NM_001105209.3:c.210C>A, NM_001105209.2:c.210C>A, NM_001105208.3:c.210C>A, NM_001105208.2:c.210C>A, NW_003871062.1:g.251462G>T, NP_001098679.1:p.Cys70Ter, NP_001098678.1:p.Cys70Ter

Select item 138996364111.

rs1389963641 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:112253817 (GRCh38)
6:112575019 (GRCh37)
Canonical SPDI:: NC_000006.12:112253816:T:C
Gene:: LAMA4 (Varview), LAMA4-AS1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.112253817T>C, NC_000006.11:g.112575019T>C, NG_008209.1:g.5810A>G, NM_001105209.3:c.334A>G, NM_001105209.2:c.334A>G, NM_001105208.3:c.334A>G, NM_001105208.2:c.334A>G, NW_003871062.1:g.251338T>C, NP_001098679.1:p.Lys112Glu, NP_001098678.1:p.Lys112Glu

Select item 138016583212.

rs1380165832 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 6:112254097 (GRCh38)
6:112575299 (GRCh37)
Canonical SPDI:: NC_000006.12:112254096:G:A,NC_000006.12:112254096:G:C,NC_000006.12:112254096:G:T
Gene:: LAMA4 (Varview), LAMA4-AS1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.112254097G>A, NC_000006.12:g.112254097G>C, NC_000006.12:g.112254097G>T, NC_000006.11:g.112575299G>A, NC_000006.11:g.112575299G>C, NC_000006.11:g.112575299G>T, NG_008209.1:g.5530C>T, NG_008209.1:g.5530C>G, NG_008209.1:g.5530C>A, NM_002290.5:c.54C>T, NM_002290.5:c.54C>G, NM_002290.5:c.54C>A, NM_002290.4:c.54C>T, NM_002290.4:c.54C>G, NM_002290.4:c.54C>A, NM_001105206.3:c.54C>T, NM_001105206.3:c.54C>G, NM_001105206.3:c.54C>A, NM_001105206.2:c.54C>T, NM_001105206.2:c.54C>G, NM_001105206.2:c.54C>A, NM_001105207.3:c.54C>T, NM_001105207.3:c.54C>G, NM_001105207.3:c.54C>A, NM_001105207.2:c.54C>T, NM_001105207.2:c.54C>G, NM_001105207.2:c.54C>A, NM_001105209.3:c.54C>T, NM_001105209.3:c.54C>G, NM_001105209.3:c.54C>A, NM_001105209.2:c.54C>T, NM_001105209.2:c.54C>G, NM_001105209.2:c.54C>A, NM_001105208.3:c.54C>T, NM_001105208.3:c.54C>G, NM_001105208.3:c.54C>A, NM_001105208.2:c.54C>T, NM_001105208.2:c.54C>G, NM_001105208.2:c.54C>A, NW_003871062.1:g.251618G>A, NW_003871062.1:g.251618G>C, NW_003871062.1:g.251618G>T, XM_005266984.5:c.54C>T, XM_005266984.5:c.54C>G, XM_005266984.5:c.54C>A, XM_005266984.4:c.54C>T, XM_005266984.4:c.54C>G, XM_005266984.4:c.54C>A, XM_005266984.3:c.54C>T, XM_005266984.3:c.54C>G, XM_005266984.3:c.54C>A, XM_005266984.2:c.54C>T, XM_005266984.2:c.54C>G, XM_005266984.2:c.54C>A, XM_005266984.1:c.54C>T, XM_005266984.1:c.54C>G, XM_005266984.1:c.54C>A, XM_005266983.5:c.54C>T, XM_005266983.5:c.54C>G, XM_005266983.5:c.54C>A, XM_005266983.4:c.54C>T, XM_005266983.4:c.54C>G, XM_005266983.4:c.54C>A, XM_005266983.3:c.54C>T, XM_005266983.3:c.54C>G, XM_005266983.3:c.54C>A, XM_005266983.2:c.54C>T, XM_005266983.2:c.54C>G, XM_005266983.2:c.54C>A, XM_005266983.1:c.54C>T, XM_005266983.1:c.54C>G, XM_005266983.1:c.54C>A, XM_017010854.3:c.54C>T, XM_017010854.3:c.54C>G, XM_017010854.3:c.54C>A, XM_017010854.2:c.54C>T, XM_017010854.2:c.54C>G, XM_017010854.2:c.54C>A, XM_017010854.1:c.54C>T, XM_017010854.1:c.54C>G, XM_017010854.1:c.54C>A, XM_047418769.1:c.54C>T, XM_047418769.1:c.54C>G, XM_047418769.1:c.54C>A, XM_047418770.1:c.54C>T, XM_047418770.1:c.54C>G, XM_047418770.1:c.54C>A, XM_047418771.1:c.54C>T, XM_047418771.1:c.54C>G, XM_047418771.1:c.54C>A, NP_002281.3:p.Ser18Arg, NP_002281.3:p.Ser18Arg, NP_001098676.2:p.Ser18Arg, NP_001098676.2:p.Ser18Arg, NP_001098677.2:p.Ser18Arg, NP_001098677.2:p.Ser18Arg, NP_001098679.1:p.Ser18Arg, NP_001098679.1:p.Ser18Arg, NP_001098678.1:p.Ser18Arg, NP_001098678.1:p.Ser18Arg, XP_005267041.2:p.Ser18Arg, XP_005267041.2:p.Ser18Arg, XP_005267040.2:p.Ser18Arg, XP_005267040.2:p.Ser18Arg, XP_016866343.1:p.Ser18Arg, XP_016866343.1:p.Ser18Arg, XP_047274725.1:p.Ser18Arg, XP_047274725.1:p.Ser18Arg, XP_047274726.1:p.Ser18Arg, XP_047274726.1:p.Ser18Arg, XP_047274727.1:p.Ser18Arg, XP_047274727.1:p.Ser18Arg

Select item 137890586313.

rs1378905863 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:112253870 (GRCh38)
6:112575072 (GRCh37)
Canonical SPDI:: NC_000006.12:112253869:G:C
Gene:: LAMA4 (Varview), LAMA4-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.112253870G>C, NC_000006.11:g.112575072G>C, NG_008209.1:g.5757C>G, NM_001105209.3:c.281C>G, NM_001105209.2:c.281C>G, NM_001105208.3:c.281C>G, NM_001105208.2:c.281C>G, NW_003871062.1:g.251391G>C, NP_001098679.1:p.Pro94Arg, NP_001098678.1:p.Pro94Arg

Select item 136099317014.

rs1360993170 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:112253939 (GRCh38)
6:112575141 (GRCh37)
Canonical SPDI:: NC_000006.12:112253938:T:C
Gene:: LAMA4 (Varview), LAMA4-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000006.12:g.112253939T>C, NC_000006.11:g.112575141T>C, NG_008209.1:g.5688A>G, NM_001105209.3:c.212A>G, NM_001105209.2:c.212A>G, NM_001105208.3:c.212A>G, NM_001105208.2:c.212A>G, NW_003871062.1:g.251460T>C, NP_001098679.1:p.His71Arg, NP_001098678.1:p.His71Arg

Select item 134717816115.

rs1347178161 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:112253917 (GRCh38)
6:112575119 (GRCh37)
Canonical SPDI:: NC_000006.12:112253916:A:T
Gene:: LAMA4 (Varview), LAMA4-AS1 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.112253917A>T, NC_000006.11:g.112575119A>T, NG_008209.1:g.5710T>A, NM_001105209.3:c.234T>A, NM_001105209.2:c.234T>A, NM_001105208.3:c.234T>A, NM_001105208.2:c.234T>A, NW_003871062.1:g.251438A>T

Select item 134182871116.

rs1341828711 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 6:112254018 (GRCh38)
6:112575220 (GRCh37)
Canonical SPDI:: NC_000006.12:112254017:G:
Gene:: LAMA4 (Varview), LAMA4-AS1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,frameshift_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000019/5 (TOPMED)
-=0.00002/4 (GnomAD_exomes)
-=0.00008/1 (GoESP)
HGVS:: NC_000006.12:g.112254018del, NC_000006.11:g.112575220del, NG_008209.1:g.5609del, NM_002290.5:c.133del, NM_002290.4:c.133del, NM_001105206.3:c.133del, NM_001105206.2:c.133del, NM_001105207.3:c.133del, NM_001105207.2:c.133del, NM_001105209.3:c.133del, NM_001105209.2:c.133del, NM_001105208.3:c.133del, NM_001105208.2:c.133del, NW_003871062.1:g.251539del, XM_005266984.5:c.133del, XM_005266984.4:c.133del, XM_005266984.3:c.133del, XM_005266984.2:c.133del, XM_005266984.1:c.133del, XM_005266983.5:c.133del, XM_005266983.4:c.133del, XM_005266983.3:c.133del, XM_005266983.2:c.133del, XM_005266983.1:c.133del, XM_017010854.3:c.133del, XM_017010854.2:c.133del, XM_017010854.1:c.133del, XM_047418769.1:c.133del, XM_047418770.1:c.133del, XM_047418771.1:c.133del, NP_002281.3:p.Gln45fs, NP_001098676.2:p.Gln45fs, NP_001098677.2:p.Gln45fs, NP_001098679.1:p.Gln45fs, NP_001098678.1:p.Gln45fs, XP_005267041.2:p.Gln45fs, XP_005267040.2:p.Gln45fs, XP_016866343.1:p.Gln45fs, XP_047274725.1:p.Gln45fs, XP_047274726.1:p.Gln45fs, XP_047274727.1:p.Gln45fs

Select item 133296867717.

rs1332968677 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:112253806 (GRCh38)
6:112575008 (GRCh37)
Canonical SPDI:: NC_000006.12:112253805:T:C
Gene:: LAMA4 (Varview), LAMA4-AS1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.112253806T>C, NC_000006.11:g.112575008T>C, NG_008209.1:g.5821A>G, NM_001105209.3:c.345A>G, NM_001105209.2:c.345A>G, NM_001105208.3:c.345A>G, NM_001105208.2:c.345A>G, NW_003871062.1:g.251327T>C, NP_001098679.1:p.Ile115Met, NP_001098678.1:p.Ile115Met

Select item 133273736718.

rs1332737367 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:112254098 (GRCh38)
6:112575300 (GRCh37)
Canonical SPDI:: NC_000006.12:112254097:C:G
Gene:: LAMA4 (Varview), LAMA4-AS1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.112254098C>G, NC_000006.11:g.112575300C>G, NG_008209.1:g.5529G>C, NM_002290.5:c.53G>C, NM_002290.4:c.53G>C, NM_001105206.3:c.53G>C, NM_001105206.2:c.53G>C, NM_001105207.3:c.53G>C, NM_001105207.2:c.53G>C, NM_001105209.3:c.53G>C, NM_001105209.2:c.53G>C, NM_001105208.3:c.53G>C, NM_001105208.2:c.53G>C, NW_003871062.1:g.251619C>G, XM_005266984.5:c.53G>C, XM_005266984.4:c.53G>C, XM_005266984.3:c.53G>C, XM_005266984.2:c.53G>C, XM_005266984.1:c.53G>C, XM_005266983.5:c.53G>C, XM_005266983.4:c.53G>C, XM_005266983.3:c.53G>C, XM_005266983.2:c.53G>C, XM_005266983.1:c.53G>C, XM_017010854.3:c.53G>C, XM_017010854.2:c.53G>C, XM_017010854.1:c.53G>C, XM_047418769.1:c.53G>C, XM_047418770.1:c.53G>C, XM_047418771.1:c.53G>C, NP_002281.3:p.Ser18Thr, NP_001098676.2:p.Ser18Thr, NP_001098677.2:p.Ser18Thr, NP_001098679.1:p.Ser18Thr, NP_001098678.1:p.Ser18Thr, XP_005267041.2:p.Ser18Thr, XP_005267040.2:p.Ser18Thr, XP_016866343.1:p.Ser18Thr, XP_047274725.1:p.Ser18Thr, XP_047274726.1:p.Ser18Thr, XP_047274727.1:p.Ser18Thr

Select item 130122030819.

rs1301220308 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:112253936 (GRCh38)
6:112575138 (GRCh37)
Canonical SPDI:: NC_000006.12:112253935:C:T
Gene:: LAMA4 (Varview), LAMA4-AS1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.112253936C>T, NC_000006.11:g.112575138C>T, NG_008209.1:g.5691G>A, NM_001105209.3:c.215G>A, NM_001105209.2:c.215G>A, NM_001105208.3:c.215G>A, NM_001105208.2:c.215G>A, NW_003871062.1:g.251457C>T, NP_001098679.1:p.Cys72Tyr, NP_001098678.1:p.Cys72Tyr

Select item 129717428020.

rs1297174280 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:112253940 (GRCh38)
6:112575142 (GRCh37)
Canonical SPDI:: NC_000006.12:112253939:G:A
Gene:: LAMA4 (Varview), LAMA4-AS1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.112253940G>A, NC_000006.11:g.112575142G>A, NG_008209.1:g.5687C>T, NM_001105209.3:c.211C>T, NM_001105209.2:c.211C>T, NM_001105208.3:c.211C>T, NM_001105208.2:c.211C>T, NW_003871062.1:g.251461G>A, NP_001098679.1:p.His71Tyr, NP_001098678.1:p.His71Tyr

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