chr1:94041345:C>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	chr1:94,506,901-94,506,901 View the variant detail on this assembly version.
hg38	chr1:94,041,345-94,041,345

HGVS

ABCA4

Type	Transcript	Protein
RefSeq	NM_000350.2:c.3386G>T	NP_000341.2:p.Arg1129Leu
Ensemble	ENST00000370225.4:c.3386G>T	ENST00000370225.4:p.Arg1129Leu

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	tgv241314973	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2024-01-24	criteria provided, multiple submitters, no conflicts	not provided	germline not provided	Detail
Likely pathogenic	2016-01-01	criteria provided, single submitter	Severe early-childhood-onset retinal dystrophy	germline	Detail
Pathogenic	2022-02-03	criteria provided, single submitter	age related macular degeneration 2,retinitis pigmentosa 19,Severe early-childhood-onset retinal dystrophy,cone-rod dystrophy 3	unknown	Detail
Pathogenic	2022-02-03	criteria provided, single submitter	age related macular degeneration 2,retinitis pigmentosa 19,Severe early-childhood-onset retinal dystrophy,cone-rod dystrophy 3	unknown	Detail
Pathogenic	2022-02-03	criteria provided, single submitter	age related macular degeneration 2,retinitis pigmentosa 19,Severe early-childhood-onset retinal dystrophy,cone-rod dystrophy 3	unknown	Detail
Pathogenic	2022-02-03	criteria provided, single submitter	age related macular degeneration 2,retinitis pigmentosa 19,Severe early-childhood-onset retinal dystrophy,cone-rod dystrophy 3	unknown	Detail
Pathogenic	2019-05-09	criteria provided, single submitter	Retinal dystrophy	germline	Detail
Pathogenic	2022-05-04	criteria provided, multiple submitters, no conflicts	age related macular degeneration 2	germline unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.442	STARGARDT DISEASE 1 (disorder)	Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the preval...	UNIPROT	18977788	Detail
0.360	Macular Degeneration, Age-Related, 2	Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the preval...	UNIPROT	18977788	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000350.3(ABCA4):c.3386G>T (p.Arg1129Leu) AND not provided	ClinVar	Detail
NM_000350.3(ABCA4):c.3386G>T (p.Arg1129Leu) AND Severe early-childhood-onset retinal dystrophy	ClinVar	Detail
NM_000350.3(ABCA4):c.3386G>T (p.Arg1129Leu) AND multiple conditions	ClinVar	Detail
NM_000350.3(ABCA4):c.3386G>T (p.Arg1129Leu) AND multiple conditions	ClinVar	Detail
NM_000350.3(ABCA4):c.3386G>T (p.Arg1129Leu) AND multiple conditions	ClinVar	Detail
NM_000350.3(ABCA4):c.3386G>T (p.Arg1129Leu) AND multiple conditions	ClinVar	Detail
NM_000350.3(ABCA4):c.3386G>T (p.Arg1129Leu) AND Retinal dystrophy	ClinVar	Detail
NM_000350.3(ABCA4):c.3386G>T (p.Arg1129Leu) AND Age related macular degeneration 2	ClinVar	Detail
Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal re...	DisGeNET	Detail
Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal re...	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: rs1801269 dbSNP
Genome: hg38
Position: chr1:94,041,345-94,041,345
Variant Type: snv
Reference Allele: C
Alternative Allele: A
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): 121388
Allele Counts in All Race (ExAC): 30
Heterozygous Counts in All Race (ExAC): 30
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 2.4714139783174615E-4

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