chr1:94564500:G>C 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	chr1:94,564,500-94,564,500
hg38	chr1:94,098,944-94,098,944 View the variant detail on this assembly version.

HGVS

ABCA4

Type	Transcript	Protein
RefSeq	NM_000350.2:c.618C>G	NP_000341.2:p.Ser206Arg
Ensemble	ENST00000649773.1:c.618C>G	ENST00000649773.1:p.Ser206Arg
	ENST00000370225.4:c.618C>G	ENST00000370225.4:p.Ser206Arg

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	Conflicting classifications of pathogenicity
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	COSM2260698	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Conflicting interpretations of pathogenicity	2024-01-29	criteria provided, conflicting interpretations	not provided	germline not provided	Detail
Conflicting interpretations of pathogenicity	2023-05-12	criteria provided, conflicting interpretations	not specified	germline	Detail
Uncertain significance	2019-05-28	criteria provided, single submitter	Severe early-childhood-onset retinal dystrophy	unknown	Detail
Uncertain significance	2020-06-11	criteria provided, single submitter	Retinal dystrophy	germline	Detail
Uncertain significance	2024-02-29	criteria provided, multiple submitters, no conflicts	ABCA4-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.442	STARGARDT DISEASE 1 (disorder)	Twenty-nine patients with Stargardt dystrophy or fundus flavimaculatus from diff...	UNIPROT	10206579	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000350.3(ABCA4):c.618C>G (p.Ser206Arg) AND not provided	ClinVar	Detail
NM_000350.3(ABCA4):c.618C>G (p.Ser206Arg) AND not specified	ClinVar	Detail
NM_000350.3(ABCA4):c.618C>G (p.Ser206Arg) AND Severe early-childhood-onset retinal dystrophy	ClinVar	Detail
NM_000350.3(ABCA4):c.618C>G (p.Ser206Arg) AND Retinal dystrophy	ClinVar	Detail
NM_000350.3(ABCA4):c.618C>G (p.Ser206Arg) AND ABCA4-related disorder	ClinVar	Detail
Twenty-nine patients with Stargardt dystrophy or fundus flavimaculatus from different pedigrees were...	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: rs61748536 dbSNP
Genome: hg19
Position: chr1:94,564,500-94,564,500
Variant Type: snv
Reference Allele: G
Alternative Allele: C
East Asian Chromosome Counts (ExAC): 8472
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): 118200
Allele Counts in All Race (ExAC): 162
Heterozygous Counts in All Race (ExAC): 161
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 0.0013705583756345179

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