chr1:94508976:C>T Detail (hg19) (ABCA4)

Information

Genome

Assembly Position
hg19 chr1:94,508,976-94,508,976
hg38 chr1:94,043,420-94,043,420 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000350.2:c.3106G>A NP_000341.2:p.Glu1036Lys
Ensemble ENST00000370225.4:c.3106G>A ENST00000370225.4:p.Glu1036Lys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic Likely 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
Pathogenic 1998-01-01 no assertion criteria provided Severe early-childhood-onset retinal dystrophy germline Detail
Likely pathogenic 2023-11-19 criteria provided, single submitter not provided germline not provided Detail
Pathogenic 2023-10-10 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
Annotation

Annotations

DescrptionSourceLinks
NM_000350.3(ABCA4):c.3106G>A (p.Glu1036Lys) AND Severe early-childhood-onset retinal dystrophy ClinVar Detail
NM_000350.3(ABCA4):c.3106G>A (p.Glu1036Lys) AND not provided ClinVar Detail
NM_000350.3(ABCA4):c.3106G>A (p.Glu1036Lys) AND Stargardt disease 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
rs61750061 dbSNP
Genome
hg19
Position
chr1:94,508,976-94,508,976
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser