chr1:94062587:C>T Detail (hg38) (ABCA4)

Information

Genome

Assembly Position
hg19 chr1:94,528,143-94,528,143 View the variant detail on this assembly version.
hg38 chr1:94,062,587-94,062,587

HGVS

Type Transcript Protein
RefSeq NM_000350.2:c.1927G>A NP_000341.2:p.Val643Met
Ensemble ENST00000370225.4:c.1927G>A ENST00000370225.4:p.Val643Met
ENST00000649773.1:c.1927G>A ENST00000649773.1:p.Val643Met
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 tgv300150402 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 2024-01-31 criteria provided, conflicting interpretations not provided germline not provided Detail
Benign 2015-05-13 criteria provided, single submitter not specified germline Detail
Likely benign 2016-06-14 criteria provided, single submitter macular degeneration 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
Benign 2019-05-28 criteria provided, single submitter Severe early-childhood-onset retinal dystrophy unknown Detail
Uncertain significance 2019-08-02 criteria provided, single submitter Retinal dystrophy germline Detail
Likely benign 2017-04-27 criteria provided, single submitter ABCA4-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
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.1927G>A (p.Val643Met) AND not provided ClinVar Detail
NM_000350.3(ABCA4):c.1927G>A (p.Val643Met) AND not specified ClinVar Detail
NM_000350.3(ABCA4):c.1927G>A (p.Val643Met) AND Macular degeneration ClinVar Detail
NM_000350.3(ABCA4):c.1927G>A (p.Val643Met) AND Cone-Rod Dystrophy, Recessive ClinVar Detail
NM_000350.3(ABCA4):c.1927G>A (p.Val643Met) AND Stargardt Disease, Recessive ClinVar Detail
NM_000350.3(ABCA4):c.1927G>A (p.Val643Met) AND Retinitis Pigmentosa, Recessive ClinVar Detail
NM_000350.3(ABCA4):c.1927G>A (p.Val643Met) AND Severe early-childhood-onset retinal dystrophy ClinVar Detail
NM_000350.3(ABCA4):c.1927G>A (p.Val643Met) AND Retinal dystrophy ClinVar Detail
NM_000350.3(ABCA4):c.1927G>A (p.Val643Met) AND ABCA4-related disorder ClinVar 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
rs61749417 dbSNP
Genome
hg38
Position
chr1:94,062,587-94,062,587
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8618
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)
121108
Allele Counts in All Race (ExAC)
196
Heterozygous Counts in All Race (ExAC)
194
Homozygous Counts in All Race (ExAC)
1
Allele Frequency in All Race (ExAC)
0.0016183901971793771
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