chr6:65334996:C>T Detail (hg38) (EYS)

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

Genome

Assembly	Position
hg19	chr6:66,044,889-66,044,889 View the variant detail on this assembly version.
hg38	chr6:65,334,996-65,334,996

HGVS

EYS

Type	Transcript	Protein
RefSeq	NM_198283.1:c.1750G>A	NP_938024.1:p.Glu584Lys
	NM_001292009.1:c.1750G>A	NP_001278938.1:p.Glu584Lys
	NM_001142801.1:c.1750G>A	NP_001136273.1:p.Glu584Lys
	NM_001142800.1:c.1750G>A	NP_001136272.1:p.Glu584Lys
Ensemble	ENST00000342421.9:c.1750G>A	ENST00000342421.9:p.Glu584Lys
	ENST00000370621.7:c.1750G>A	ENST00000370621.7:p.Glu584Lys
	ENST00000393380.6:c.1750G>A	ENST00000393380.6:p.Glu584Lys
	ENST00000503581.6:c.1750G>A	ENST00000503581.6:p.Glu584Lys

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	Uncertain significance
Review star
Show details

Links

EYS

Type	Database	ID	Link
Gene	MIM	612424	OMIM
	HGNC	21555	HGNC
	Ensembl	ENSG00000188107	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC	COSM4356549	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Uncertain significance	2022-03-10	criteria provided, single submitter	not provided	germline	Detail
Uncertain significance	2020-10-16	no assertion criteria provided	retinitis pigmentosa 25	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.370	retinitis pigmentosa	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_001142800.2(EYS):c.1750G>A (p.Glu584Lys) AND not provided	ClinVar	Detail
NM_001142800.2(EYS):c.1750G>A (p.Glu584Lys) AND Retinitis pigmentosa 25	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: rs527236072 dbSNP
Genome: hg38
Position: chr6:65,334,996-65,334,996
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8614
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): 120694
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.285416010737898E-6

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