SNP Links for Protein (Select 24025688) - SNP

Select item 14892375761.

rs1489237576 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:27556372 (GRCh38)
13:28130509 (GRCh37)
Canonical SPDI:: NC_000013.11:27556371:A:G
Gene:: LNX2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.27556372A>G, NC_000013.10:g.28130509A>G, NM_153371.4:c.1410T>C, NM_153371.3:c.1410T>C, XM_011534995.3:c.1041T>C, XM_011534995.2:c.1041T>C, XM_011534995.1:c.1041T>C, XM_017020434.2:c.1410T>C, XM_017020434.1:c.1410T>C, XM_047430147.1:c.1410T>C, XM_047430149.1:c.1410T>C, XM_047430145.1:c.1410T>C, XM_047430150.1:c.1410T>C, XM_047430148.1:c.1410T>C, XM_047430151.1:c.1041T>C

Select item 14885401682.

rs1488540168 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 13:27550339 (GRCh38)
13:28124476 (GRCh37)
Canonical SPDI:: NC_000013.11:27550338:C:A,NC_000013.11:27550338:C:T
Gene:: LNX2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.27550339C>A, NC_000013.11:g.27550339C>T, NC_000013.10:g.28124476C>A, NC_000013.10:g.28124476C>T, NM_153371.4:c.1931G>T, NM_153371.4:c.1931G>A, NM_153371.3:c.1931G>T, NM_153371.3:c.1931G>A, XM_011534995.3:c.1562G>T, XM_011534995.3:c.1562G>A, XM_011534995.2:c.1562G>T, XM_011534995.2:c.1562G>A, XM_011534995.1:c.1562G>T, XM_011534995.1:c.1562G>A, XM_017020434.2:c.1931G>T, XM_017020434.2:c.1931G>A, XM_017020434.1:c.1931G>T, XM_017020434.1:c.1931G>A, XM_047430147.1:c.1931G>T, XM_047430147.1:c.1931G>A, XM_047430149.1:c.1931G>T, XM_047430149.1:c.1931G>A, XM_047430145.1:c.1931G>T, XM_047430145.1:c.1931G>A, XM_047430150.1:c.1931G>T, XM_047430150.1:c.1931G>A, XM_047430148.1:c.1931G>T, XM_047430148.1:c.1931G>A, XM_047430151.1:c.1562G>T, XM_047430151.1:c.1562G>A, NP_699202.1:p.Arg644Ile, NP_699202.1:p.Arg644Lys, XP_011533297.1:p.Arg521Ile, XP_011533297.1:p.Arg521Lys, XP_016875923.1:p.Arg644Ile, XP_016875923.1:p.Arg644Lys, XP_047286103.1:p.Arg644Ile, XP_047286103.1:p.Arg644Lys, XP_047286105.1:p.Arg644Ile, XP_047286105.1:p.Arg644Lys, XP_047286101.1:p.Arg644Ile, XP_047286101.1:p.Arg644Lys, XP_047286106.1:p.Arg644Ile, XP_047286106.1:p.Arg644Lys, XP_047286104.1:p.Arg644Ile, XP_047286104.1:p.Arg644Lys, XP_047286107.1:p.Arg521Ile, XP_047286107.1:p.Arg521Lys

Select item 14866078693.

rs1486607869 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:27569085 (GRCh38)
13:28143222 (GRCh37)
Canonical SPDI:: NC_000013.11:27569084:C:T
Gene:: LNX2 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.27569085C>T, NC_000013.10:g.28143222C>T, NM_153371.4:c.599G>A, NM_153371.3:c.599G>A, XM_011534995.3:c.599G>A, XM_011534995.2:c.599G>A, XM_011534995.1:c.599G>A, XM_017020434.2:c.599G>A, XM_017020434.1:c.599G>A, XM_047430147.1:c.599G>A, XM_047430149.1:c.599G>A, XM_047430145.1:c.599G>A, XM_047430150.1:c.599G>A, XM_047430148.1:c.599G>A, XM_047430151.1:c.599G>A, NP_699202.1:p.Trp200Ter, XP_011533297.1:p.Trp200Ter, XP_016875923.1:p.Trp200Ter, XP_047286103.1:p.Trp200Ter, XP_047286105.1:p.Trp200Ter, XP_047286101.1:p.Trp200Ter, XP_047286106.1:p.Trp200Ter, XP_047286104.1:p.Trp200Ter, XP_047286107.1:p.Trp200Ter

Select item 14865221894.

rs1486522189 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACAGTTTATA [Show Flanks]
Chromosome:: 13:27550477 (GRCh38)
13:28124615 (GRCh37)
Canonical SPDI:: NC_000013.11:27550477:A:AACAGTTTATA
Gene:: LNX2 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: AACAGTTTATA=0./0 (ALFA)
HGVS:: NC_000013.11:g.27550478_27550479insACAGTTTATA, NC_000013.10:g.28124615_28124616insACAGTTTATA, NM_153371.4:c.1792_1793insATAAACTGTT, NM_153371.3:c.1792_1793insATAAACTGTT, XM_011534995.3:c.1423_1424insATAAACTGTT, XM_011534995.2:c.1423_1424insATAAACTGTT, XM_011534995.1:c.1423_1424insATAAACTGTT, XM_017020434.2:c.1792_1793insATAAACTGTT, XM_017020434.1:c.1792_1793insATAAACTGTT, XM_047430147.1:c.1792_1793insATAAACTGTT, XM_047430149.1:c.1792_1793insATAAACTGTT, XM_047430145.1:c.1792_1793insATAAACTGTT, XM_047430150.1:c.1792_1793insATAAACTGTT, XM_047430148.1:c.1792_1793insATAAACTGTT, XM_047430151.1:c.1423_1424insATAAACTGTT, NP_699202.1:p.Cys598fs, XP_011533297.1:p.Cys475fs, XP_016875923.1:p.Cys598fs, XP_047286103.1:p.Cys598fs, XP_047286105.1:p.Cys598fs, XP_047286101.1:p.Cys598fs, XP_047286106.1:p.Cys598fs, XP_047286104.1:p.Cys598fs, XP_047286107.1:p.Cys475fs

Select item 14861468805.

rs1486146880 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 13:27567649 (GRCh38)
13:28141786 (GRCh37)
Canonical SPDI:: NC_000013.11:27567648:C:A
Gene:: LNX2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000013.11:g.27567649C>A, NC_000013.10:g.28141786C>A, NM_153371.4:c.846G>T, NM_153371.3:c.846G>T, XM_011534995.3:c.846G>T, XM_011534995.2:c.846G>T, XM_011534995.1:c.846G>T, XM_017020434.2:c.846G>T, XM_017020434.1:c.846G>T, XM_047430147.1:c.846G>T, XM_047430149.1:c.846G>T, XM_047430145.1:c.846G>T, XM_047430150.1:c.846G>T, XM_047430148.1:c.846G>T, XM_047430151.1:c.846G>T, NP_699202.1:p.Gln282His, XP_011533297.1:p.Gln282His, XP_016875923.1:p.Gln282His, XP_047286103.1:p.Gln282His, XP_047286105.1:p.Gln282His, XP_047286101.1:p.Gln282His, XP_047286106.1:p.Gln282His, XP_047286104.1:p.Gln282His, XP_047286107.1:p.Gln282His

Select item 14847585836.

rs1484758583 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 13:27553316 (GRCh38)
13:28127453 (GRCh37)
Canonical SPDI:: NC_000013.11:27553315:A:C
Gene:: LNX2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.27553316A>C, NC_000013.10:g.28127453A>C, NM_153371.4:c.1670T>G, NM_153371.3:c.1670T>G, XM_011534995.3:c.1301T>G, XM_011534995.2:c.1301T>G, XM_011534995.1:c.1301T>G, XM_017020434.2:c.1670T>G, XM_017020434.1:c.1670T>G, XM_047430147.1:c.1670T>G, XM_047430149.1:c.1670T>G, XM_047430145.1:c.1670T>G, XM_047430150.1:c.1670T>G, XM_047430148.1:c.1670T>G, XM_047430151.1:c.1301T>G, NP_699202.1:p.Ile557Ser, XP_011533297.1:p.Ile434Ser, XP_016875923.1:p.Ile557Ser, XP_047286103.1:p.Ile557Ser, XP_047286105.1:p.Ile557Ser, XP_047286101.1:p.Ile557Ser, XP_047286106.1:p.Ile557Ser, XP_047286104.1:p.Ile557Ser, XP_047286107.1:p.Ile434Ser

Select item 14841111627.

rs1484111162 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:27569080 (GRCh38)
13:28143217 (GRCh37)
Canonical SPDI:: NC_000013.11:27569079:C:T
Gene:: LNX2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.27569080C>T, NC_000013.10:g.28143217C>T, NM_153371.4:c.604G>A, NM_153371.3:c.604G>A, XM_011534995.3:c.604G>A, XM_011534995.2:c.604G>A, XM_011534995.1:c.604G>A, XM_017020434.2:c.604G>A, XM_017020434.1:c.604G>A, XM_047430147.1:c.604G>A, XM_047430149.1:c.604G>A, XM_047430145.1:c.604G>A, XM_047430150.1:c.604G>A, XM_047430148.1:c.604G>A, XM_047430151.1:c.604G>A, NP_699202.1:p.Glu202Lys, XP_011533297.1:p.Glu202Lys, XP_016875923.1:p.Glu202Lys, XP_047286103.1:p.Glu202Lys, XP_047286105.1:p.Glu202Lys, XP_047286101.1:p.Glu202Lys, XP_047286106.1:p.Glu202Lys, XP_047286104.1:p.Glu202Lys, XP_047286107.1:p.Glu202Lys

Select item 14839864028.

rs1483986402 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:27567682 (GRCh38)
13:28141819 (GRCh37)
Canonical SPDI:: NC_000013.11:27567681:A:G
Gene:: LNX2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000013.11:g.27567682A>G, NC_000013.10:g.28141819A>G, NM_153371.4:c.813T>C, NM_153371.3:c.813T>C, XM_011534995.3:c.813T>C, XM_011534995.2:c.813T>C, XM_011534995.1:c.813T>C, XM_017020434.2:c.813T>C, XM_017020434.1:c.813T>C, XM_047430147.1:c.813T>C, XM_047430149.1:c.813T>C, XM_047430145.1:c.813T>C, XM_047430150.1:c.813T>C, XM_047430148.1:c.813T>C, XM_047430151.1:c.813T>C

Select item 14836941219.

rs1483694121 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 13:27581349 (GRCh38)
13:28155486 (GRCh37)
Canonical SPDI:: NC_000013.11:27581348:C:A
Gene:: LNX2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000013.11:g.27581349C>A, NC_000013.10:g.28155486C>A, NM_153371.4:c.355G>T, NM_153371.3:c.355G>T, XM_011534995.3:c.355G>T, XM_011534995.2:c.355G>T, XM_011534995.1:c.355G>T, XM_017020434.2:c.355G>T, XM_017020434.1:c.355G>T, XM_047430147.1:c.355G>T, XM_047430149.1:c.355G>T, XM_047430145.1:c.355G>T, XM_047430150.1:c.355G>T, XM_047430148.1:c.355G>T, XM_047430151.1:c.355G>T, NP_699202.1:p.Val119Leu, XP_011533297.1:p.Val119Leu, XP_016875923.1:p.Val119Leu, XP_047286103.1:p.Val119Leu, XP_047286105.1:p.Val119Leu, XP_047286101.1:p.Val119Leu, XP_047286106.1:p.Val119Leu, XP_047286104.1:p.Val119Leu, XP_047286107.1:p.Val119Leu

Select item 147896422610.

rs1478964226 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 13:27567834 (GRCh38)
13:28141971 (GRCh37)
Canonical SPDI:: NC_000013.11:27567833:G:T
Gene:: LNX2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.27567834G>T, NC_000013.10:g.28141971G>T, NM_153371.4:c.661C>A, NM_153371.3:c.661C>A, XM_011534995.3:c.661C>A, XM_011534995.2:c.661C>A, XM_011534995.1:c.661C>A, XM_017020434.2:c.661C>A, XM_017020434.1:c.661C>A, XM_047430147.1:c.661C>A, XM_047430149.1:c.661C>A, XM_047430145.1:c.661C>A, XM_047430150.1:c.661C>A, XM_047430148.1:c.661C>A, XM_047430151.1:c.661C>A, NP_699202.1:p.Gln221Lys, XP_011533297.1:p.Gln221Lys, XP_016875923.1:p.Gln221Lys, XP_047286103.1:p.Gln221Lys, XP_047286105.1:p.Gln221Lys, XP_047286101.1:p.Gln221Lys, XP_047286106.1:p.Gln221Lys, XP_047286104.1:p.Gln221Lys, XP_047286107.1:p.Gln221Lys

Select item 147691379211.

rs1476913792 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 13:27562547 (GRCh38)
13:28136684 (GRCh37)
Canonical SPDI:: NC_000013.11:27562546:C:A
Gene:: LNX2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000013.11:g.27562547C>A, NC_000013.10:g.28136684C>A, NM_153371.4:c.1090G>T, NM_153371.3:c.1090G>T, XM_017020434.2:c.1090G>T, XM_017020434.1:c.1090G>T, XM_047430147.1:c.1090G>T, XM_047430149.1:c.1090G>T, XM_047430145.1:c.1090G>T, XM_047430150.1:c.1090G>T, XM_047430148.1:c.1090G>T, NP_699202.1:p.Val364Phe, XP_016875923.1:p.Val364Phe, XP_047286103.1:p.Val364Phe, XP_047286105.1:p.Val364Phe, XP_047286101.1:p.Val364Phe, XP_047286106.1:p.Val364Phe, XP_047286104.1:p.Val364Phe

Select item 147456616612.

rs1474566166 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:27562481 (GRCh38)
13:28136618 (GRCh37)
Canonical SPDI:: NC_000013.11:27562480:G:A
Gene:: LNX2 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000015/4 (TOPMED)
HGVS:: NC_000013.11:g.27562481G>A, NC_000013.10:g.28136618G>A, NM_153371.4:c.1156C>T, NM_153371.3:c.1156C>T, XM_017020434.2:c.1156C>T, XM_017020434.1:c.1156C>T, XM_047430147.1:c.1156C>T, XM_047430149.1:c.1156C>T, XM_047430145.1:c.1156C>T, XM_047430150.1:c.1156C>T, XM_047430148.1:c.1156C>T, NP_699202.1:p.Arg386Ter, XP_016875923.1:p.Arg386Ter, XP_047286103.1:p.Arg386Ter, XP_047286105.1:p.Arg386Ter, XP_047286101.1:p.Arg386Ter, XP_047286106.1:p.Arg386Ter, XP_047286104.1:p.Arg386Ter

Select item 147270220713.

rs1472702207 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:27581595 (GRCh38)
13:28155732 (GRCh37)
Canonical SPDI:: NC_000013.11:27581594:A:G
Gene:: LNX2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000013.11:g.27581595A>G, NC_000013.10:g.28155732A>G, NM_153371.4:c.109T>C, NM_153371.3:c.109T>C, XM_011534995.3:c.109T>C, XM_011534995.2:c.109T>C, XM_011534995.1:c.109T>C, XM_017020434.2:c.109T>C, XM_017020434.1:c.109T>C, XM_047430147.1:c.109T>C, XM_047430149.1:c.109T>C, XM_047430145.1:c.109T>C, XM_047430150.1:c.109T>C, XM_047430148.1:c.109T>C, XM_047430151.1:c.109T>C

Select item 147197730714.

rs1471977307 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 13:27581693 (GRCh38)
13:28155830 (GRCh37)
Canonical SPDI:: NC_000013.11:27581692:G:T
Gene:: LNX2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.27581693G>T, NC_000013.10:g.28155830G>T, NM_153371.4:c.11C>A, NM_153371.3:c.11C>A, XM_011534995.3:c.11C>A, XM_011534995.2:c.11C>A, XM_011534995.1:c.11C>A, XM_017020434.2:c.11C>A, XM_017020434.1:c.11C>A, XM_047430147.1:c.11C>A, XM_047430149.1:c.11C>A, XM_047430145.1:c.11C>A, XM_047430150.1:c.11C>A, XM_047430148.1:c.11C>A, XM_047430151.1:c.11C>A, NP_699202.1:p.Thr4Lys, XP_011533297.1:p.Thr4Lys, XP_016875923.1:p.Thr4Lys, XP_047286103.1:p.Thr4Lys, XP_047286105.1:p.Thr4Lys, XP_047286101.1:p.Thr4Lys, XP_047286106.1:p.Thr4Lys, XP_047286104.1:p.Thr4Lys, XP_047286107.1:p.Thr4Lys

Select item 147171717115.

rs1471717171 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:27556355 (GRCh38)
13:28130492 (GRCh37)
Canonical SPDI:: NC_000013.11:27556354:T:C
Gene:: LNX2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000013.11:g.27556355T>C, NC_000013.10:g.28130492T>C, NM_153371.4:c.1427A>G, NM_153371.3:c.1427A>G, XM_011534995.3:c.1058A>G, XM_011534995.2:c.1058A>G, XM_011534995.1:c.1058A>G, XM_017020434.2:c.1427A>G, XM_017020434.1:c.1427A>G, XM_047430147.1:c.1427A>G, XM_047430149.1:c.1427A>G, XM_047430145.1:c.1427A>G, XM_047430150.1:c.1427A>G, XM_047430148.1:c.1427A>G, XM_047430151.1:c.1058A>G, NP_699202.1:p.His476Arg, XP_011533297.1:p.His353Arg, XP_016875923.1:p.His476Arg, XP_047286103.1:p.His476Arg, XP_047286105.1:p.His476Arg, XP_047286101.1:p.His476Arg, XP_047286106.1:p.His476Arg, XP_047286104.1:p.His476Arg, XP_047286107.1:p.His353Arg

Select item 147105835316.

rs1471058353 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:27562723 (GRCh38)
13:28136860 (GRCh37)
Canonical SPDI:: NC_000013.11:27562722:T:C
Gene:: LNX2 (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_000013.11:g.27562723T>C, NC_000013.10:g.28136860T>C, NM_153371.4:c.914A>G, NM_153371.3:c.914A>G, XM_017020434.2:c.914A>G, XM_017020434.1:c.914A>G, XM_047430147.1:c.914A>G, XM_047430149.1:c.914A>G, XM_047430145.1:c.914A>G, XM_047430150.1:c.914A>G, XM_047430148.1:c.914A>G, NP_699202.1:p.Gln305Arg, XP_016875923.1:p.Gln305Arg, XP_047286103.1:p.Gln305Arg, XP_047286105.1:p.Gln305Arg, XP_047286101.1:p.Gln305Arg, XP_047286106.1:p.Gln305Arg, XP_047286104.1:p.Gln305Arg

Select item 147099923017.

rs1470999230 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 13:27553329 (GRCh38)
13:28127466 (GRCh37)
Canonical SPDI:: NC_000013.11:27553328:G:A,NC_000013.11:27553328:G:C
Gene:: LNX2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000013.11:g.27553329G>A, NC_000013.11:g.27553329G>C, NC_000013.10:g.28127466G>A, NC_000013.10:g.28127466G>C, NM_153371.4:c.1657C>T, NM_153371.4:c.1657C>G, NM_153371.3:c.1657C>T, NM_153371.3:c.1657C>G, XM_011534995.3:c.1288C>T, XM_011534995.3:c.1288C>G, XM_011534995.2:c.1288C>T, XM_011534995.2:c.1288C>G, XM_011534995.1:c.1288C>T, XM_011534995.1:c.1288C>G, XM_017020434.2:c.1657C>T, XM_017020434.2:c.1657C>G, XM_017020434.1:c.1657C>T, XM_017020434.1:c.1657C>G, XM_047430147.1:c.1657C>T, XM_047430147.1:c.1657C>G, XM_047430149.1:c.1657C>T, XM_047430149.1:c.1657C>G, XM_047430145.1:c.1657C>T, XM_047430145.1:c.1657C>G, XM_047430150.1:c.1657C>T, XM_047430150.1:c.1657C>G, XM_047430148.1:c.1657C>T, XM_047430148.1:c.1657C>G, XM_047430151.1:c.1288C>T, XM_047430151.1:c.1288C>G, NP_699202.1:p.Leu553Phe, NP_699202.1:p.Leu553Val, XP_011533297.1:p.Leu430Phe, XP_011533297.1:p.Leu430Val, XP_016875923.1:p.Leu553Phe, XP_016875923.1:p.Leu553Val, XP_047286103.1:p.Leu553Phe, XP_047286103.1:p.Leu553Val, XP_047286105.1:p.Leu553Phe, XP_047286105.1:p.Leu553Val, XP_047286101.1:p.Leu553Phe, XP_047286101.1:p.Leu553Val, XP_047286106.1:p.Leu553Phe, XP_047286106.1:p.Leu553Val, XP_047286104.1:p.Leu553Phe, XP_047286104.1:p.Leu553Val, XP_047286107.1:p.Leu430Phe, XP_047286107.1:p.Leu430Val

Select item 147047151518.

rs1470471515 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 13:27562651 (GRCh38)
13:28136788 (GRCh37)
Canonical SPDI:: NC_000013.11:27562650:T:G
Gene:: LNX2 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000013.11:g.27562651T>G, NC_000013.10:g.28136788T>G, NM_153371.4:c.986A>C, NM_153371.3:c.986A>C, XM_017020434.2:c.986A>C, XM_017020434.1:c.986A>C, XM_047430147.1:c.986A>C, XM_047430149.1:c.986A>C, XM_047430145.1:c.986A>C, XM_047430150.1:c.986A>C, XM_047430148.1:c.986A>C, NP_699202.1:p.Asp329Ala, XP_016875923.1:p.Asp329Ala, XP_047286103.1:p.Asp329Ala, XP_047286105.1:p.Asp329Ala, XP_047286101.1:p.Asp329Ala, XP_047286106.1:p.Asp329Ala, XP_047286104.1:p.Asp329Ala

Select item 147031368619.

rs1470313686 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 13:27562678 (GRCh38)
13:28136815 (GRCh37)
Canonical SPDI:: NC_000013.11:27562677:A:C
Gene:: LNX2 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000013.11:g.27562678A>C, NC_000013.10:g.28136815A>C, NM_153371.4:c.959T>G, NM_153371.3:c.959T>G, XM_017020434.2:c.959T>G, XM_017020434.1:c.959T>G, XM_047430147.1:c.959T>G, XM_047430149.1:c.959T>G, XM_047430145.1:c.959T>G, XM_047430150.1:c.959T>G, XM_047430148.1:c.959T>G, NP_699202.1:p.Phe320Cys, XP_016875923.1:p.Phe320Cys, XP_047286103.1:p.Phe320Cys, XP_047286105.1:p.Phe320Cys, XP_047286101.1:p.Phe320Cys, XP_047286106.1:p.Phe320Cys, XP_047286104.1:p.Phe320Cys

Select item 146746543620.

rs1467465436 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:27581527 (GRCh38)
13:28155664 (GRCh37)
Canonical SPDI:: NC_000013.11:27581526:C:T
Gene:: LNX2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.27581527C>T, NC_000013.10:g.28155664C>T, NM_153371.4:c.177G>A, NM_153371.3:c.177G>A, XM_011534995.3:c.177G>A, XM_011534995.2:c.177G>A, XM_011534995.1:c.177G>A, XM_017020434.2:c.177G>A, XM_017020434.1:c.177G>A, XM_047430147.1:c.177G>A, XM_047430149.1:c.177G>A, XM_047430145.1:c.177G>A, XM_047430150.1:c.177G>A, XM_047430148.1:c.177G>A, XM_047430151.1:c.177G>A

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Result Filters

Clinical Significance

Validation Status

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Global MAF

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Additional filters

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Items: 1 to 20 of 662

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