chr1:94586550:G>A Detail (hg19) (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	chr1:94,586,550-94,586,550
hg38	chr1:94,120,994-94,120,994 View the variant detail on this assembly version.

HGVS

ABCA4

Type	Transcript	Protein
RefSeq	NM_000350.2:c.52C>T	NP_000341.2:p.Arg18Trp
Ensemble	ENST00000649773.1:c.52C>T	ENST00000649773.1:p.Arg18Trp
	ENST00000370225.4:c.52C>T	ENST00000370225.4:p.Arg18Trp

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 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 Likely pathogenic	2021-04-08	criteria provided, multiple submitters, no conflicts	Severe early-childhood-onset retinal dystrophy	germline	Detail
Pathogenic	2024-01-30	criteria provided, multiple submitters, no conflicts	not provided	germline not provided	Detail
Pathogenic	2019-05-09	criteria provided, single submitter	Retinal dystrophy	germline	Detail
Likely pathogenic	2021-01-30	criteria provided, single submitter	Severe early-childhood-onset retinal dystrophy	unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.442	STARGARDT DISEASE 1 (disorder)	NA	CLINVAR		Detail
0.442	STARGARDT DISEASE 1 (disorder)	Complete exon-intron structure of the retina-specific ATP binding transporter ge...	UNIPROT	9503029	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000350.3(ABCA4):c.52C>T (p.Arg18Trp) AND Severe early-childhood-onset retinal dystrophy	ClinVar	Detail
NM_000350.3(ABCA4):c.52C>T (p.Arg18Trp) AND not provided	ClinVar	Detail
NM_000350.3(ABCA4):c.52C>T (p.Arg18Trp) AND Retinal dystrophy	ClinVar	Detail
NM_000350.3(ABCA4):c.[52C>T;5603A>T] AND Severe early-childhood-onset retinal dystrophy	ClinVar	Detail
NA	DisGeNET	Detail
Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the...	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: rs121909205 dbSNP
Genome: hg19
Position: chr1:94,586,550-94,586,550
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8654
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): 121392
Allele Counts in All Race (ExAC): 3
Heterozygous Counts in All Race (ExAC): 3
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 2.4713325425069198E-5

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