chr1:94512566:G>C Detail (hg19) (ABCA4)

Information

Genome

Assembly Position
hg19 chr1:94,512,566-94,512,566
hg38 chr1:94,047,010-94,047,010 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000350.2:c.2827C>G NP_000341.2:p.Arg943Gly
Ensemble ENST00000370225.4:c.2827C>G ENST00000370225.4:p.Arg943Gly
ENST00000649773.1:c.2605C>G ENST00000649773.1:p.Arg869Gly
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance not provided
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
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.442 STARGARDT DISEASE 1 (disorder) In addition, we report three new pseudodominant families that now comprise eight... UNIPROT 11379881 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000350.3(ABCA4):c.2827C>G (p.Arg943Gly) AND not provided ClinVar Detail
In addition, we report three new pseudodominant families that now comprise eight of 178 outbred STGD... 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
rs61749446 dbSNP
Genome
hg19
Position
chr1:94,512,566-94,512,566
Variant Type
snv
Reference Allele
G
Alternative Allele
C
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