chr6:65300746:G>A Detail (hg19) (EYS)

Information

Genome

Assembly Position
hg19 chr6:65,300,746-65,300,746
hg38 chr6:64,590,853-64,590,853 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001292009.1:c.5014C>T NP_001278938.1:p.Gln1672Ter
NM_001142800.1:c.5014C>T NP_001136272.1:p.Gln1672Ter
Ensemble ENST00000370621.7:c.5014C>T ENST00000370621.7:p.Gln1672Ter
Summary

MGeND

Clinical significance Pathogenic
Variant entry 2
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Likely pathogenic
Review star
Show details
Links
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
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic retinitis pigmentosa germline MGS000009
(TMGS000012) 		Shoji Tsuji Tokyo University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic no assertion criteria provided retinitis pigmentosa not provided Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.370 retinitis pigmentosa NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001142800.2(EYS):c.5014C>T (p.Gln1672Ter) AND Retinitis pigmentosa 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
rs527236074 dbSNP
Genome
hg19
Position
chr6:65,300,746-65,300,746
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser