chr1:94029515:C>T 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	chr1:94,495,071-94,495,071 View the variant detail on this assembly version.
hg38	chr1:94,029,515-94,029,515

HGVS

ABCA4

Type	Transcript	Protein
RefSeq	NM_000350.2:c.4469G>A	NP_000341.2:p.Cys1490Tyr
Ensemble	ENST00000370225.4:c.4469G>A	ENST00000370225.4:p.Cys1490Tyr

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance	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	2024-01-21	criteria provided, multiple submitters, no conflicts	not provided	germline not provided	Detail
Pathogenic	2021-04-08	criteria provided, multiple submitters, no conflicts	Severe early-childhood-onset retinal dystrophy	germline unknown	Detail
Pathogenic	2019-07-16	criteria provided, single submitter	Retinal dystrophy	germline	Detail
Pathogenic	2018-08-14	criteria provided, single submitter	ABCA4-related disorder	germline	Detail
Pathogenic	2018-04-01	no assertion criteria provided		unknown	Detail
Pathogenic		criteria provided, single submitter	retinitis pigmentosa 19	germline	Detail
Pathogenic	2021-12-16	criteria provided, single submitter		unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.442	STARGARDT DISEASE 1 (disorder)	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr) AND not provided	ClinVar	Detail
NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr) AND Severe early-childhood-onset retinal dystrophy	ClinVar	Detail
NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr) AND Retinal dystrophy	ClinVar	Detail
NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr) AND ABCA4-related disorder	ClinVar	Detail
NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr) AND Macular dystrophy	ClinVar	Detail
NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr) AND Retinitis pigmentosa 19	ClinVar	Detail
NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr) AND Abnormal retinal morphology	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: rs61751402 dbSNP
Genome: hg38
Position: chr1:94,029,515-94,029,515
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 4664
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 60116
Allele Counts in All Race (ExAC): 12
Heterozygous Counts in All Race (ExAC): 12
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 1.9961407944640362E-4

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