chr1:94121045:T>C Detail (hg38) (ABCA4)

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

Genome

Assembly	Position
hg19	chr1:94,586,601-94,586,601 View the variant detail on this assembly version.
hg38	chr1:94,121,045-94,121,045

HGVS

ABCA4

Type	Transcript	Protein
RefSeq	NM_000350.2:c.1A>G	NP_000341.2:p.?
Ensemble	ENST00000370225.4:c.1A>G	ENST00000370225.4:p.?
	ENST00000649773.1:c.1A>G	ENST00000649773.1:p.?

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

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
Pathogenic	2024-01-12	criteria provided, multiple submitters, no conflicts	not provided	germline not provided	Detail
Pathogenic Likely pathogenic	2021-01-30	criteria provided, multiple submitters, no conflicts	Severe early-childhood-onset retinal dystrophy	germline unknown	Detail
Pathogenic	2016-01-01	criteria provided, single submitter	Severe early-childhood-onset retinal dystrophy	germline	Detail
Pathogenic	2019-06-23	no assertion criteria provided	Stargardt disease	inherited	Detail
Likely pathogenic	2021-07-10	criteria provided, single submitter		germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_000350.3(ABCA4):c.1A>G (p.Met1Val) AND not provided	ClinVar	Detail
NM_000350.3(ABCA4):c.1A>G (p.Met1Val) AND Severe early-childhood-onset retinal dystrophy	ClinVar	Detail
NM_000350.2(ABCA4):c.[1A>G;6089G>A] AND Severe early-childhood-onset retinal dystrophy	ClinVar	Detail
NM_000350.2(ABCA4):c.[1A>G;6089G>A] AND Stargardt disease	ClinVar	Detail
NM_000350.3(ABCA4):c.1A>G (p.Met1Val) AND Abnormality of the eye	ClinVar	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: rs201738997 dbSNP
Genome: hg38
Position: chr1:94,121,045-94,121,045
Variant Type: snv
Reference Allele: T
Alternative Allele: C

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