chr1:94578624:T>C Detail (hg19) (ABCA4)

Information

Genome

Assembly Position
hg19 chr1:94,578,624-94,578,624
hg38 chr1:94,113,068-94,113,068 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000350.2:c.67-2A>G
Ensemble ENST00000649773.1:c.67-2A>G
ENST00000370225.4:c.67-2A>G
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 2022-06-23 criteria provided, multiple submitters, no conflicts Severe early-childhood-onset retinal dystrophy germline unknown Detail
Pathogenic 2016-06-12 no assertion criteria provided macular degeneration unknown Detail
Pathogenic Likely pathogenic 2023-01-30 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2019-04-12 criteria provided, single submitter Retinal dystrophy 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.67-2A>G AND Severe early-childhood-onset retinal dystrophy ClinVar Detail
NM_000350.3(ABCA4):c.67-2A>G AND multiple conditions ClinVar Detail
NM_000350.3(ABCA4):c.67-2A>G AND not provided ClinVar Detail
NM_000350.3(ABCA4):c.67-2A>G AND Retinal dystrophy ClinVar Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs398123339 dbSNP
Genome
hg19
Position
chr1:94,578,624-94,578,624
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Genome browser