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

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

Type Transcript Protein
RefSeq NM_198283.1:c.1750G>T NP_938024.1:p.Glu584Ter
NM_001292009.1:c.1750G>T NP_001278938.1:p.Glu584Ter
NM_001142801.1:c.1750G>T NP_001136273.1:p.Glu584Ter
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance 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 tgv342470996 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic no assertion criteria provided retinitis pigmentosa not provided Detail
Pathogenic 2023-03-18 criteria provided, single submitter not provided germline Detail
Pathogenic 2023-04-07 criteria provided, single submitter retinitis pigmentosa 25 unknown 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.1750G>T (p.Glu584Ter) AND Retinitis pigmentosa ClinVar Detail
NM_001142800.2(EYS):c.1750G>T (p.Glu584Ter) AND not provided ClinVar Detail
NM_001142800.2(EYS):c.1750G>T (p.Glu584Ter) 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
A
Genome browser