chr1:94078678:T>G Detail (hg38) (ABCA4)

Go to:

Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
Genome browser

Information

Genome

Assembly	Position
hg19	chr1:94,544,234-94,544,234 View the variant detail on this assembly version.
hg38	chr1:94,078,678-94,078,678

HGVS

ABCA4

Type	Transcript	Protein
RefSeq	NM_000350.2:c.1268A>C	NP_000341.2:p.His423Pro
Ensemble	ENST00000370225.4:c.1268A>C	ENST00000370225.4:p.His423Pro
	ENST00000649773.1:c.1268A>C	ENST00000649773.1:p.His423Pro

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

ABCA4

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
<0.001	age related macular degeneration	A variant located at the 3' UTR of the FGF2 gene (rs6820411) was highly associat...	BeFree	21106043	Detail
<0.001	Atrophic condition of skin	A variant located at the 3' UTR of the FGF2 gene (rs6820411) was highly associat...	BeFree	21106043	Detail
<0.001	Atrophic condition of skin	A variant located at the 3' UTR of the FGF2 gene (rs6820411) was highly associat...	BeFree	21106043	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000350.3(ABCA4):c.1268A>C (p.His423Pro) AND not provided	ClinVar	Detail
A variant located at the 3' UTR of the FGF2 gene (rs6820411) was highly associated with atrophic AMD...	DisGeNET	Detail
A variant located at the 3' UTR of the FGF2 gene (rs6820411) was highly associated with atrophic AMD...	DisGeNET	Detail
A variant located at the 3' UTR of the FGF2 gene (rs6820411) was highly associated with atrophic AMD...	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: rs3112831 dbSNP
Genome: hg38
Position: chr1:94,078,678-94,078,678
Variant Type: snv
Reference Allele: T
Alternative Allele: G

Genome browser