SNP Links for Protein (Select 767910775) - SNP

Links from Protein

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Select item 14854924951.

rs1485492495 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:180274435 (GRCh38)
1:180243570 (GRCh37)
Canonical SPDI:: NC_000001.11:180274434:T:G
Gene:: ACBD6 (Varview), LHX4 (Varview), LHX4-AS1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.180274435T>G, NC_000001.10:g.180243570T>G, NG_008081.1:g.49129T>G, NM_033343.3:c.1029T>G, NM_033343.4:c.1029T>G, XM_011510106.4:c.846T>G, XM_011510106.3:c.846T>G, XM_011510106.2:c.846T>G, XM_011510106.1:c.846T>G, XM_011510105.3:c.846T>G, XM_011510105.2:c.846T>G, XM_011510105.1:c.846T>G, XM_011510108.3:c.804T>G, XM_011510108.2:c.804T>G, XM_011510108.1:c.804T>G, XM_047432084.1:c.*7176A>C, XM_047432085.1:c.*1283A>C, XM_047432081.1:c.*1279A>C, XM_047432082.1:c.*1198A>C, XM_047432080.1:c.*1152A>C, XM_047432083.1:c.*1135A>C, NP_203129.1:p.His343Gln, XP_011508408.1:p.His282Gln, XP_011508407.1:p.His282Gln, XP_011508410.1:p.His268Gln

Select item 14854217382.

rs1485421738 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:180271935 (GRCh38)
1:180241070 (GRCh37)
Canonical SPDI:: NC_000001.11:180271934:G:A
Gene:: ACBD6 (Varview), LHX4 (Varview), LHX4-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.180271935G>A, NC_000001.10:g.180241070G>A, NG_008081.1:g.46629G>A, NM_033343.3:c.707G>A, NM_033343.4:c.707G>A, XM_011510106.4:c.524G>A, XM_011510106.3:c.524G>A, XM_011510106.2:c.524G>A, XM_011510106.1:c.524G>A, XM_011510105.3:c.524G>A, XM_011510105.2:c.524G>A, XM_011510105.1:c.524G>A, XM_011510108.3:c.482G>A, XM_011510108.2:c.482G>A, XM_011510108.1:c.482G>A, XM_047432084.1:c.*9676C>T, XM_047432085.1:c.*3783C>T, XM_047432081.1:c.*3779C>T, XM_047432082.1:c.*3698C>T, XM_047432080.1:c.*3652C>T, XM_047432083.1:c.*3635C>T, NR_037642.1:n.385C>T, NP_203129.1:p.Gly236Asp, XP_011508408.1:p.Gly175Asp, XP_011508407.1:p.Gly175Asp, XP_011508410.1:p.Gly161Asp

Select item 14758873503.

rs1475887350 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:180274319 (GRCh38)
1:180243454 (GRCh37)
Canonical SPDI:: NC_000001.11:180274318:G:T
Gene:: ACBD6 (Varview), LHX4 (Varview), LHX4-AS1 (Varview)
Functional Consequence:: missense_variant,intron_variant,3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.180274319G>T, NC_000001.10:g.180243454G>T, NG_008081.1:g.49013G>T, NM_033343.3:c.913G>T, NM_033343.4:c.913G>T, XM_011510106.4:c.730G>T, XM_011510106.3:c.730G>T, XM_011510106.2:c.730G>T, XM_011510106.1:c.730G>T, XM_011510105.3:c.730G>T, XM_011510105.2:c.730G>T, XM_011510105.1:c.730G>T, XM_011510108.3:c.688G>T, XM_011510108.2:c.688G>T, XM_011510108.1:c.688G>T, XM_047432084.1:c.*7292C>A, XM_047432085.1:c.*1399C>A, XM_047432081.1:c.*1395C>A, XM_047432082.1:c.*1314C>A, XM_047432080.1:c.*1268C>A, XM_047432083.1:c.*1251C>A, NP_203129.1:p.Gly305Trp, XP_011508408.1:p.Gly244Trp, XP_011508407.1:p.Gly244Trp, XP_011508410.1:p.Gly230Trp

Select item 14726170514.

rs1472617051 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:180271436 (GRCh38)
1:180240571 (GRCh37)
Canonical SPDI:: NC_000001.11:180271435:G:C
Gene:: ACBD6 (Varview), LHX4 (Varview), LHX4-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.180271436G>C, NC_000001.10:g.180240571G>C, NG_008081.1:g.46130G>C, NM_033343.3:c.508G>C, NM_033343.4:c.508G>C, XM_011510106.4:c.325G>C, XM_011510106.3:c.325G>C, XM_011510106.2:c.325G>C, XM_011510106.1:c.325G>C, XM_011510105.3:c.325G>C, XM_011510105.2:c.325G>C, XM_011510105.1:c.325G>C, XM_011510108.3:c.283G>C, XM_011510108.2:c.283G>C, XM_011510108.1:c.283G>C, XM_047432084.1:c.*10175C>G, XM_047432085.1:c.*4282C>G, XM_047432081.1:c.*4278C>G, XM_047432082.1:c.*4197C>G, XM_047432080.1:c.*4151C>G, XM_047432083.1:c.*4134C>G, NR_037642.1:n.884C>G, NP_203129.1:p.Glu170Gln, XP_011508408.1:p.Glu109Gln, XP_011508407.1:p.Glu109Gln, XP_011508410.1:p.Glu95Gln

Select item 14688956285.

rs1468895628 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:180271882 (GRCh38)
1:180241017 (GRCh37)
Canonical SPDI:: NC_000001.11:180271881:T:C
Gene:: ACBD6 (Varview), LHX4 (Varview), LHX4-AS1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000051/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.180271882T>C, NC_000001.10:g.180241017T>C, NG_008081.1:g.46576T>C, NM_033343.3:c.654T>C, NM_033343.4:c.654T>C, XM_011510106.4:c.471T>C, XM_011510106.3:c.471T>C, XM_011510106.2:c.471T>C, XM_011510106.1:c.471T>C, XM_011510105.3:c.471T>C, XM_011510105.2:c.471T>C, XM_011510105.1:c.471T>C, XM_011510108.3:c.429T>C, XM_011510108.2:c.429T>C, XM_011510108.1:c.429T>C, XM_047432084.1:c.*9729A>G, XM_047432085.1:c.*3836A>G, XM_047432081.1:c.*3832A>G, XM_047432082.1:c.*3751A>G, XM_047432080.1:c.*3705A>G, XM_047432083.1:c.*3688A>G, NR_037642.1:n.438A>G

Select item 14675602036.

rs1467560203 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:180274239 (GRCh38)
1:180243374 (GRCh37)
Canonical SPDI:: NC_000001.11:180274238:G:T
Gene:: ACBD6 (Varview), LHX4 (Varview), LHX4-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.180274239G>T, NC_000001.10:g.180243374G>T, NG_008081.1:g.48933G>T, NM_033343.3:c.833G>T, NM_033343.4:c.833G>T, XM_011510106.4:c.650G>T, XM_011510106.3:c.650G>T, XM_011510106.2:c.650G>T, XM_011510106.1:c.650G>T, XM_011510105.3:c.650G>T, XM_011510105.2:c.650G>T, XM_011510105.1:c.650G>T, XM_011510108.3:c.608G>T, XM_011510108.2:c.608G>T, XM_011510108.1:c.608G>T, XM_047432084.1:c.*7372C>A, XM_047432085.1:c.*1479C>A, XM_047432081.1:c.*1475C>A, XM_047432082.1:c.*1394C>A, XM_047432080.1:c.*1348C>A, XM_047432083.1:c.*1331C>A, NP_203129.1:p.Gly278Val, XP_011508408.1:p.Gly217Val, XP_011508407.1:p.Gly217Val, XP_011508410.1:p.Gly203Val

Select item 14627843597.

rs1462784359 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:180274448 (GRCh38)
1:180243583 (GRCh37)
Canonical SPDI:: NC_000001.11:180274447:G:A
Gene:: ACBD6 (Varview), LHX4 (Varview), LHX4-AS1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.180274448G>A, NC_000001.10:g.180243583G>A, NG_008081.1:g.49142G>A, NM_033343.3:c.1042G>A, NM_033343.4:c.1042G>A, XM_011510106.4:c.859G>A, XM_011510106.3:c.859G>A, XM_011510106.2:c.859G>A, XM_011510106.1:c.859G>A, XM_011510105.3:c.859G>A, XM_011510105.2:c.859G>A, XM_011510105.1:c.859G>A, XM_011510108.3:c.817G>A, XM_011510108.2:c.817G>A, XM_011510108.1:c.817G>A, XM_047432084.1:c.*7163C>T, XM_047432085.1:c.*1270C>T, XM_047432081.1:c.*1266C>T, XM_047432082.1:c.*1185C>T, XM_047432080.1:c.*1139C>T, XM_047432083.1:c.*1122C>T, NP_203129.1:p.Val348Ile, XP_011508408.1:p.Val287Ile, XP_011508407.1:p.Val287Ile, XP_011508410.1:p.Val273Ile

Select item 14597999618.

rs1459799961 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:180271446 (GRCh38)
1:180240581 (GRCh37)
Canonical SPDI:: NC_000001.11:180271445:A:G
Gene:: ACBD6 (Varview), LHX4 (Varview), LHX4-AS1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.180271446A>G, NC_000001.10:g.180240581A>G, NG_008081.1:g.46140A>G, NM_033343.3:c.518A>G, NM_033343.4:c.518A>G, XM_011510106.4:c.335A>G, XM_011510106.3:c.335A>G, XM_011510106.2:c.335A>G, XM_011510106.1:c.335A>G, XM_011510105.3:c.335A>G, XM_011510105.2:c.335A>G, XM_011510105.1:c.335A>G, XM_011510108.3:c.293A>G, XM_011510108.2:c.293A>G, XM_011510108.1:c.293A>G, XM_047432084.1:c.*10165T>C, XM_047432085.1:c.*4272T>C, XM_047432081.1:c.*4268T>C, XM_047432082.1:c.*4187T>C, XM_047432080.1:c.*4141T>C, XM_047432083.1:c.*4124T>C, NR_037642.1:n.874T>C, NP_203129.1:p.Lys173Arg, XP_011508408.1:p.Lys112Arg, XP_011508407.1:p.Lys112Arg, XP_011508410.1:p.Lys98Arg

Select item 14579018059.

rs1457901805 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:180274426 (GRCh38)
1:180243561 (GRCh37)
Canonical SPDI:: NC_000001.11:180274425:C:G,NC_000001.11:180274425:C:T
Gene:: ACBD6 (Varview), LHX4 (Varview), LHX4-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant,missense_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.180274426C>G, NC_000001.11:g.180274426C>T, NC_000001.10:g.180243561C>G, NC_000001.10:g.180243561C>T, NG_008081.1:g.49120C>G, NG_008081.1:g.49120C>T, NM_033343.3:c.1020C>G, NM_033343.3:c.1020C>T, NM_033343.4:c.1020C>G, NM_033343.4:c.1020C>T, XM_011510106.4:c.837C>G, XM_011510106.4:c.837C>T, XM_011510106.3:c.837C>G, XM_011510106.3:c.837C>T, XM_011510106.2:c.837C>G, XM_011510106.2:c.837C>T, XM_011510106.1:c.837C>G, XM_011510106.1:c.837C>T, XM_011510105.3:c.837C>G, XM_011510105.3:c.837C>T, XM_011510105.2:c.837C>G, XM_011510105.2:c.837C>T, XM_011510105.1:c.837C>G, XM_011510105.1:c.837C>T, XM_011510108.3:c.795C>G, XM_011510108.3:c.795C>T, XM_011510108.2:c.795C>G, XM_011510108.2:c.795C>T, XM_011510108.1:c.795C>G, XM_011510108.1:c.795C>T, XM_047432084.1:c.*7185G>C, XM_047432084.1:c.*7185G>A, XM_047432085.1:c.*1292G>C, XM_047432085.1:c.*1292G>A, XM_047432081.1:c.*1288G>C, XM_047432081.1:c.*1288G>A, XM_047432082.1:c.*1207G>C, XM_047432082.1:c.*1207G>A, XM_047432080.1:c.*1161G>C, XM_047432080.1:c.*1161G>A, XM_047432083.1:c.*1144G>C, XM_047432083.1:c.*1144G>A, NP_203129.1:p.Ile340Met, XP_011508408.1:p.Ile279Met, XP_011508407.1:p.Ile279Met, XP_011508410.1:p.Ile265Met

Select item 145572732610.

rs1455727326 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:180271457 (GRCh38)
1:180240592 (GRCh37)
Canonical SPDI:: NC_000001.11:180271456:A:G
Gene:: ACBD6 (Varview), LHX4 (Varview), LHX4-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000023/6 (TOPMED)
G=0.000036/5 (GnomAD)
HGVS:: NC_000001.11:g.180271457A>G, NC_000001.10:g.180240592A>G, NG_008081.1:g.46151A>G, NM_033343.3:c.529A>G, NM_033343.4:c.529A>G, XM_011510106.4:c.346A>G, XM_011510106.3:c.346A>G, XM_011510106.2:c.346A>G, XM_011510106.1:c.346A>G, XM_011510105.3:c.346A>G, XM_011510105.2:c.346A>G, XM_011510105.1:c.346A>G, XM_011510108.3:c.304A>G, XM_011510108.2:c.304A>G, XM_011510108.1:c.304A>G, XM_047432084.1:c.*10154T>C, XM_047432085.1:c.*4261T>C, XM_047432081.1:c.*4257T>C, XM_047432082.1:c.*4176T>C, XM_047432080.1:c.*4130T>C, XM_047432083.1:c.*4113T>C, NR_037642.1:n.863T>C, NP_203129.1:p.Lys177Glu, XP_011508408.1:p.Lys116Glu, XP_011508407.1:p.Lys116Glu, XP_011508410.1:p.Lys102Glu

Select item 145455665611.

rs1454556656 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:180274525 (GRCh38)
1:180243660 (GRCh37)
Canonical SPDI:: NC_000001.11:180274524:C:G
Gene:: ACBD6 (Varview), LHX4 (Varview), LHX4-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,genic_downstream_transcript_variant,3_prime_UTR_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_000001.11:g.180274525C>G, NC_000001.10:g.180243660C>G, NG_008081.1:g.49219C>G, NM_033343.3:c.1119C>G, NM_033343.4:c.1119C>G, XM_011510106.4:c.936C>G, XM_011510106.3:c.936C>G, XM_011510106.2:c.936C>G, XM_011510106.1:c.936C>G, XM_011510105.3:c.936C>G, XM_011510105.2:c.936C>G, XM_011510105.1:c.936C>G, XM_011510108.3:c.894C>G, XM_011510108.2:c.894C>G, XM_011510108.1:c.894C>G, XM_047432084.1:c.*7086G>C, XM_047432085.1:c.*1193G>C, XM_047432081.1:c.*1189G>C, XM_047432082.1:c.*1108G>C, XM_047432080.1:c.*1062G>C, XM_047432083.1:c.*1045G>C, NP_203129.1:p.Asp373Glu, XP_011508408.1:p.Asp312Glu, XP_011508407.1:p.Asp312Glu, XP_011508410.1:p.Asp298Glu

Select item 144796764612.

rs1447967646 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:180271380 (GRCh38)
1:180240515 (GRCh37)
Canonical SPDI:: NC_000001.11:180271379:A:G
Gene:: ACBD6 (Varview), LHX4 (Varview), LHX4-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.180271380A>G, NC_000001.10:g.180240515A>G, NG_008081.1:g.46074A>G, NM_033343.3:c.452A>G, NM_033343.4:c.452A>G, XM_011510106.4:c.269A>G, XM_011510106.3:c.269A>G, XM_011510106.2:c.269A>G, XM_011510106.1:c.269A>G, XM_011510105.3:c.269A>G, XM_011510105.2:c.269A>G, XM_011510105.1:c.269A>G, XM_011510108.3:c.227A>G, XM_011510108.2:c.227A>G, XM_011510108.1:c.227A>G, XM_047432084.1:c.*10231T>C, XM_047432085.1:c.*4338T>C, XM_047432081.1:c.*4334T>C, XM_047432082.1:c.*4253T>C, XM_047432080.1:c.*4207T>C, XM_047432083.1:c.*4190T>C, NR_037642.1:n.940T>C, NP_203129.1:p.Asp151Gly, XP_011508408.1:p.Asp90Gly, XP_011508407.1:p.Asp90Gly, XP_011508410.1:p.Asp76Gly

Select item 144795632313.

rs1447956323 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:180274366 (GRCh38)
1:180243501 (GRCh37)
Canonical SPDI:: NC_000001.11:180274365:G:A
Gene:: ACBD6 (Varview), LHX4 (Varview), LHX4-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.180274366G>A, NC_000001.10:g.180243501G>A, NG_008081.1:g.49060G>A, NM_033343.3:c.960G>A, NM_033343.4:c.960G>A, XM_011510106.4:c.777G>A, XM_011510106.3:c.777G>A, XM_011510106.2:c.777G>A, XM_011510106.1:c.777G>A, XM_011510105.3:c.777G>A, XM_011510105.2:c.777G>A, XM_011510105.1:c.777G>A, XM_011510108.3:c.735G>A, XM_011510108.2:c.735G>A, XM_011510108.1:c.735G>A, XM_047432084.1:c.*7245C>T, XM_047432085.1:c.*1352C>T, XM_047432081.1:c.*1348C>T, XM_047432082.1:c.*1267C>T, XM_047432080.1:c.*1221C>T, XM_047432083.1:c.*1204C>T

Select item 144626709914.

rs1446267099 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:180266472 (GRCh38)
1:180235607 (GRCh37)
Canonical SPDI:: NC_000001.11:180266471:A:G
Gene:: LHX4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.180266472A>G, NC_000001.10:g.180235607A>G, NG_008081.1:g.41166A>G, NM_033343.3:c.329A>G, NM_033343.4:c.329A>G, XM_011510106.4:c.146A>G, XM_011510106.3:c.146A>G, XM_011510106.2:c.146A>G, XM_011510106.1:c.146A>G, XM_011510105.3:c.146A>G, XM_011510105.2:c.146A>G, XM_011510105.1:c.146A>G, XM_011510108.3:c.104A>G, XM_011510108.2:c.104A>G, XM_011510108.1:c.104A>G, NP_203129.1:p.Tyr110Cys, XP_011508408.1:p.Tyr49Cys, XP_011508407.1:p.Tyr49Cys, XP_011508410.1:p.Tyr35Cys

Select item 144608121815.

rs1446081218 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:180274370 (GRCh38)
1:180243505 (GRCh37)
Canonical SPDI:: NC_000001.11:180274369:T:C
Gene:: ACBD6 (Varview), LHX4 (Varview), LHX4-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.180274370T>C, NC_000001.10:g.180243505T>C, NG_008081.1:g.49064T>C, NM_033343.3:c.964T>C, NM_033343.4:c.964T>C, XM_011510106.4:c.781T>C, XM_011510106.3:c.781T>C, XM_011510106.2:c.781T>C, XM_011510106.1:c.781T>C, XM_011510105.3:c.781T>C, XM_011510105.2:c.781T>C, XM_011510105.1:c.781T>C, XM_011510108.3:c.739T>C, XM_011510108.2:c.739T>C, XM_011510108.1:c.739T>C, XM_047432084.1:c.*7241A>G, XM_047432085.1:c.*1348A>G, XM_047432081.1:c.*1344A>G, XM_047432082.1:c.*1263A>G, XM_047432080.1:c.*1217A>G, XM_047432083.1:c.*1200A>G, NP_203129.1:p.Ser322Pro, XP_011508408.1:p.Ser261Pro, XP_011508407.1:p.Ser261Pro, XP_011508410.1:p.Ser247Pro

Select item 144238084916.

rs1442380849 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:180248456 (GRCh38)
1:180217591 (GRCh37)
Canonical SPDI:: NC_000001.11:180248455:A:G
Gene:: LHX4 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.180248456A>G, NC_000001.10:g.180217591A>G, NG_008081.1:g.23150A>G, NM_033343.3:c.248A>G, NM_033343.4:c.248A>G, XM_011510106.4:c.65A>G, XM_011510106.3:c.65A>G, XM_011510106.2:c.65A>G, XM_011510106.1:c.65A>G, XM_011510105.3:c.65A>G, XM_011510105.2:c.65A>G, XM_011510105.1:c.65A>G, XM_011510108.3:c.-29A>G, XM_011510108.2:c.-29A>G, XM_011510108.1:c.-29A>G, NP_203129.1:p.Lys83Arg, XP_011508408.1:p.Lys22Arg, XP_011508407.1:p.Lys22Arg

Select item 143953098817.

rs1439530988 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:180274521 (GRCh38)
1:180243656 (GRCh37)
Canonical SPDI:: NC_000001.11:180274520:C:T
Gene:: ACBD6 (Varview), LHX4 (Varview), LHX4-AS1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.180274521C>T, NC_000001.10:g.180243656C>T, NG_008081.1:g.49215C>T, NM_033343.3:c.1115C>T, NM_033343.4:c.1115C>T, XM_011510106.4:c.932C>T, XM_011510106.3:c.932C>T, XM_011510106.2:c.932C>T, XM_011510106.1:c.932C>T, XM_011510105.3:c.932C>T, XM_011510105.2:c.932C>T, XM_011510105.1:c.932C>T, XM_011510108.3:c.890C>T, XM_011510108.2:c.890C>T, XM_011510108.1:c.890C>T, XM_047432084.1:c.*7090G>A, XM_047432085.1:c.*1197G>A, XM_047432081.1:c.*1193G>A, XM_047432082.1:c.*1112G>A, XM_047432080.1:c.*1066G>A, XM_047432083.1:c.*1049G>A, NP_203129.1:p.Pro372Leu, XP_011508408.1:p.Pro311Leu, XP_011508407.1:p.Pro311Leu, XP_011508410.1:p.Pro297Leu

Select item 143490693518.

rs1434906935 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:180274461 (GRCh38)
1:180243596 (GRCh37)
Canonical SPDI:: NC_000001.11:180274460:T:C
Gene:: ACBD6 (Varview), LHX4 (Varview), LHX4-AS1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.180274461T>C, NC_000001.10:g.180243596T>C, NG_008081.1:g.49155T>C, NM_033343.3:c.1055T>C, NM_033343.4:c.1055T>C, XM_011510106.4:c.872T>C, XM_011510106.3:c.872T>C, XM_011510106.2:c.872T>C, XM_011510106.1:c.872T>C, XM_011510105.3:c.872T>C, XM_011510105.2:c.872T>C, XM_011510105.1:c.872T>C, XM_011510108.3:c.830T>C, XM_011510108.2:c.830T>C, XM_011510108.1:c.830T>C, XM_047432084.1:c.*7150A>G, XM_047432085.1:c.*1257A>G, XM_047432081.1:c.*1253A>G, XM_047432082.1:c.*1172A>G, XM_047432080.1:c.*1126A>G, XM_047432083.1:c.*1109A>G, NP_203129.1:p.Leu352Pro, XP_011508408.1:p.Leu291Pro, XP_011508407.1:p.Leu291Pro, XP_011508410.1:p.Leu277Pro

Select item 143411462719.

rs1434114627 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:180271958 (GRCh38)
1:180241093 (GRCh37)
Canonical SPDI:: NC_000001.11:180271957:A:G
Gene:: ACBD6 (Varview), LHX4 (Varview), LHX4-AS1 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
HGVS:: NC_000001.11:g.180271958A>G, NC_000001.10:g.180241093A>G, NG_008081.1:g.46652A>G, NM_033343.3:c.730A>G, NM_033343.4:c.730A>G, XM_011510106.4:c.547A>G, XM_011510106.3:c.547A>G, XM_011510106.2:c.547A>G, XM_011510106.1:c.547A>G, XM_011510105.3:c.547A>G, XM_011510105.2:c.547A>G, XM_011510105.1:c.547A>G, XM_011510108.3:c.505A>G, XM_011510108.2:c.505A>G, XM_011510108.1:c.505A>G, XM_047432084.1:c.*9653T>C, XM_047432085.1:c.*3760T>C, XM_047432081.1:c.*3756T>C, XM_047432082.1:c.*3675T>C, XM_047432080.1:c.*3629T>C, XM_047432083.1:c.*3612T>C, NR_037642.1:n.362T>C, NP_203129.1:p.Ser244Gly, XP_011508408.1:p.Ser183Gly, XP_011508407.1:p.Ser183Gly, XP_011508410.1:p.Ser169Gly

Select item 143256326520.

rs1432563265 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:180266503 (GRCh38)
1:180235638 (GRCh37)
Canonical SPDI:: NC_000001.11:180266502:C:T
Gene:: LHX4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000001.11:g.180266503C>T, NC_000001.10:g.180235638C>T, NG_008081.1:g.41197C>T, NM_033343.3:c.360C>T, NM_033343.4:c.360C>T, XM_011510106.4:c.177C>T, XM_011510106.3:c.177C>T, XM_011510106.2:c.177C>T, XM_011510106.1:c.177C>T, XM_011510105.3:c.177C>T, XM_011510105.2:c.177C>T, XM_011510105.1:c.177C>T, XM_011510108.3:c.135C>T, XM_011510108.2:c.135C>T, XM_011510108.1:c.135C>T

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