chr1:94111579:C>A Detail (hg38) (ABCA4)

Information

Genome

Assembly Position
hg19 chr1:94,577,135-94,577,135 View the variant detail on this assembly version.
hg38 chr1:94,111,579-94,111,579

HGVS

Type Transcript Protein
RefSeq NM_000350.2:c.161G>T NP_000341.2:p.Cys54Phe
Ensemble ENST00000370225.4:c.161G>T ENST00000370225.4:p.Cys54Phe
ENST00000649773.1:c.161G>T ENST00000649773.1:p.Cys54Phe
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 Pathogenic
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
not provided no assertion provided not provided not provided Detail
Pathogenic no assertion criteria provided Severe early-childhood-onset retinal dystrophy not provided Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.442 STARGARDT DISEASE 1 (disorder) NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000350.3(ABCA4):c.161G>T (p.Cys54Phe) AND not provided ClinVar Detail
NM_000350.3(ABCA4):c.161G>T (p.Cys54Phe) AND Severe early-childhood-onset retinal dystrophy ClinVar Detail
NA 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
rs150774447 dbSNP
Genome
hg38
Position
chr1:94,111,579-94,111,579
Variant Type
snv
Reference Allele
C
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8636
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)
121210
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.250144377526608E-6
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