chr1:94055212:G>A Detail (hg38) (ABCA4)

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

Information

Genome

Assembly	Position
hg19	chr1:94,520,768-94,520,768 View the variant detail on this assembly version.
hg38	chr1:94,055,212-94,055,212

HGVS

ABCA4

Type	Transcript	Protein
RefSeq	NM_000350.2:c.2486C>T	NP_000341.2:p.Thr829Met
Ensemble	ENST00000370225.4:c.2486C>T	ENST00000370225.4:p.Thr829Met
	ENST00000649773.1:c.2264C>T	ENST00000649773.1:p.Thr755Met

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	tgv300150155	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Uncertain significance	2017-04-27	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	2023-10-01	criteria provided, single submitter	Retinal dystrophy	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.003	Autosomal recessive retinitis pigmentosa	Our results revealed the presence of three novel mutations: c.160T>G (p.C54G)...	BeFree	15108289	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000350.3(ABCA4):c.2486C>T (p.Thr829Met) AND ABCA4-related disorder	ClinVar	Detail
NM_000350.3(ABCA4):c.2486C>T (p.Thr829Met) AND not provided	ClinVar	Detail
NM_000350.3(ABCA4):c.2486C>T (p.Thr829Met) AND Retinal dystrophy	ClinVar	Detail
Our results revealed the presence of three novel mutations: c.160T>G (p.C54G), c.2486C>T (p.T8...	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: rs139250920 dbSNP
Genome: hg38
Position: chr1:94,055,212-94,055,212
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8654
East Asian Allele Counts (ExAC): 3
East Asian Heterozygous Counts (ExAC): 3
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 3.4666050381326557E-4
Chromosome Counts in All Race (ExAC): 121382
Allele Counts in All Race (ExAC): 16
Heterozygous Counts in All Race (ExAC): 16
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 1.3181526091183207E-4

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