chr1:94480221: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	chr1:94,480,221-94,480,221
hg38	chr1:94,014,665-94,014,665 View the variant detail on this assembly version.

HGVS

ABCA4

Type	Transcript	Protein
RefSeq	NM_000350.2:c.5338C>G	NP_000341.2:p.Pro1780Ala
Ensemble	ENST00000370225.4:c.5338C>G	ENST00000370225.4:p.Pro1780Ala

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
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Uncertain significance	2022-02-07	criteria provided, multiple submitters, no conflicts	Severe early-childhood-onset retinal dystrophy	germline maternal	Detail
Uncertain significance	2018-11-19	criteria provided, single submitter	ABCA4-related disorder	germline	Detail
Conflicting interpretations of pathogenicity	2024-01-29	criteria provided, conflicting interpretations	not provided	germline	Detail
Uncertain significance	2018-12-12	criteria provided, single submitter	Retinal dystrophy	germline	Detail
Uncertain significance	2023-06-06	criteria provided, single submitter	not specified	germline	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.5338C>G (p.Pro1780Ala) AND Severe early-childhood-onset retinal dystrophy	ClinVar	Detail
NM_000350.3(ABCA4):c.5338C>G (p.Pro1780Ala) AND ABCA4-related disorder	ClinVar	Detail
NM_000350.3(ABCA4):c.5338C>G (p.Pro1780Ala) AND not provided	ClinVar	Detail
NM_000350.3(ABCA4):c.5338C>G (p.Pro1780Ala) AND Retinal dystrophy	ClinVar	Detail
NM_000350.3(ABCA4):c.5338C>G (p.Pro1780Ala) AND not specified	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: rs121909207 dbSNP
Genome: hg19
Position: chr1:94,480,221-94,480,221
Variant Type: snv
Reference Allele: G
Alternative Allele: C
East Asian Chromosome Counts (ExAC): 8652
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): 121410
Allele Counts in All Race (ExAC): 14
Heterozygous Counts in All Race (ExAC): 14
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 1.1531175356230952E-4

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