chr6:65300558:CA> Detail (hg19) (EYS)

Information

Genome

Assembly Position
hg19 chr6:65,300,558-65,300,559
hg38 chr6:64,590,665-64,590,666 

HGVS

Type Transcript Protein
RefSeq NM_001142800.1:c.5201_5202delTG NP_001136272.1:p.Phe1735GlnfsTer6
NM_001292009.1:c.5201_5202delTG NP_001278938.1:p.Phe1735GlnfsTer6
Ensemble ENST00000503581.6:c.5201_5202delTG ENST00000503581.6:p.Phe1735GlnfsTer6
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
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.5202_5203del (p.Phe1735fs) 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
rs527236071 dbSNP
Genome
hg19
Position
chr6:65,300,558-65,300,559
Variant Type
snv
Reference Allele
CA
Alternative Allele
-
Genome browser