chr6:63778111:C>T Detail (hg38) (EYS)

Information

Genome

Assembly Position
hg19 chr6:64,488,004-64,488,004 View the variant detail on this assembly version.
hg38 chr6:63,778,111-63,778,111

HGVS

Type Transcript Protein
RefSeq NM_001292009.1:c.7793G>A NP_001278938.1:p.Gly2598Asp
NM_001142800.1:c.7793G>A NP_001136272.1:p.Gly2598Asp
Ensemble ENST00000370621.7:c.7793G>A ENST00000370621.7:p.Gly2598Asp
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Uncertain significance
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 tgv25590803 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic no assertion criteria provided retinitis pigmentosa not provided Detail
Uncertain significance 2023-07-27 criteria provided, single submitter not specified germline Detail
Uncertain significance 2023-10-01 criteria provided, single submitter Retinal dystrophy germline 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.7793G>A (p.Gly2598Asp) AND Retinitis pigmentosa ClinVar Detail
NM_001142800.2(EYS):c.7793G>A (p.Gly2598Asp) AND not specified ClinVar Detail
NM_001142800.2(EYS):c.7793G>A (p.Gly2598Asp) AND Retinal dystrophy 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
rs527236064 dbSNP
Genome
hg38
Position
chr6:63,778,111-63,778,111
Variant Type
snv
Reference Allele
C
Alternative Allele
T
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs527236064
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0003
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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