chr1:94467548:C>G Detail (hg19) (ABCA4)

Information

Genome

Assembly Position
hg19 chr1:94,467,548-94,467,548
hg38 chr1:94,001,992-94,001,992 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000350.2:c.6148G>C NP_000341.2:p.Val2050Leu
Ensemble ENST00000370225.4:c.6148G>C ENST00000370225.4:p.Val2050Leu
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
Review star
Show details
Links
Type Database ID Link
Gene MIM 601691 OMIM
HGNC 34 HGNC
Ensembl ENSG00000198691 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Conflicting interpretations of pathogenicity 2021-01-30 criteria provided, conflicting interpretations Severe early-childhood-onset retinal dystrophy germline unknown Detail
Conflicting interpretations of pathogenicity 2024-02-01 criteria provided, conflicting interpretations not provided germline not provided unknown Detail
Benign 2016-11-17 criteria provided, single submitter not specified germline Detail
Likely benign 2016-06-14 criteria provided, single submitter Cone-Rod Dystrophy, Recessive germline Detail
Likely benign 2016-06-14 criteria provided, single submitter Stargardt Disease, Recessive germline Detail
Likely benign 2016-06-14 criteria provided, single submitter Retinitis Pigmentosa, Recessive germline Detail
Likely benign 2016-06-14 criteria provided, single submitter macular degeneration germline Detail
Likely pathogenic 2016-01-01 criteria provided, single submitter Severe early-childhood-onset retinal dystrophy germline Detail
Likely pathogenic 2015-01-01 no assertion criteria provided cone dystrophy unknown Detail
Uncertain significance 2019-04-05 criteria provided, single submitter ABCA4-related disorder germline Detail
Pathogenic 2018-04-01 no assertion criteria provided retinitis pigmentosa unknown Detail
Uncertain significance 2019-03-07 criteria provided, single submitter Retinal dystrophy germline Detail
Uncertain significance 2021-05-06 criteria provided, single submitter Stargardt disease germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.442 STARGARDT DISEASE 1 (disorder) NA CLINVAR Detail
0.442 STARGARDT DISEASE 1 (disorder) Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or con... UNIPROT 11527935 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) AND Severe early-childhood-onset retinal dystrophy ClinVar Detail
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) AND not provided ClinVar Detail
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) AND not specified ClinVar Detail
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) AND Cone-Rod Dystrophy, Recessive ClinVar Detail
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) AND Stargardt Disease, Recessive ClinVar Detail
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) AND Retinitis Pigmentosa, Recessive ClinVar Detail
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) AND Macular degeneration ClinVar Detail
NM_000350.2(ABCA4):c.[5381C>A;6148G>C] AND Severe early-childhood-onset retinal dystrophy ClinVar Detail
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) AND Cone dystrophy ClinVar Detail
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) AND ABCA4-related disorder ClinVar Detail
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) AND Retinitis pigmentosa ClinVar Detail
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) AND Retinal dystrophy ClinVar Detail
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) AND Stargardt disease ClinVar Detail
NA DisGeNET Detail
Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration. DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs41292677 dbSNP
Genome
hg19
Position
chr1:94,467,548-94,467,548
Variant Type
snv
Reference Allele
C
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8640
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121350
Allele Counts in All Race (ExAC)
334
Heterozygous Counts in All Race (ExAC)
334
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
0.002752369180057684
Genome browser