View genomic variant #0000000042

Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.68903896A>G
Published as -
GERP 5.710
Segregation -
DB-ID RPE65_000003
MSCV MSCV_0000042
dbSNP ID rs62653011
Frequency -
Sources ;
Reference 12960219;13616783;11786058
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) 8.0E-5 View details
Owner LOVD




Variant on transcripts

1 entry on 1 page. Showing entry 1.
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Gene     

Transcript ID     

AscendingTranscript     

Variant ID     

Affects function     

DNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     
RPE65 00003147 NM_000329.2 0000000042 ?/? c.1102T>C p.(Tyr368His) missense_variant - 10/14 benign(0.369) r.(?) deleterious(0)
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ClinVar @ MSeqDR

RCVaccession RCV000022750; RCV000348257; RCV000022749; RCV000085150;
Chromosome 1:68903896..68903896
Allele frequencies from ESP 0.0001
Allele frequencies from ExAC 0.00007
ClinVar Allele ID 38825
Disease database name and identifier MedGen:C1859844, OMIM:204100|MedGen:C3151086, OMIM:613794|MedGen:CN239301|MedGen:CN517202
ClinVar preferred disease name Leber congenital amaurosis 2|Retinitis pigmentosa 20|RPE65-Related Disorders|not provided
HGVS variant names NC 000001.10:g.68903896A>G
ClinVar review status criteria provided, single submitter
Clinical Significance Pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported Illumina Clinical Services Laboratory, Illumina:559675|OMIM Allelic Variant:180069.0009|UniProtKB (protein):Q16518#VAR 017139
Gene symbol:Gene id. RPE65:6121
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 62653011
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:

None

Ensembl Variant Phenotype Information:

variation_namechromseq_region_startseq_region_endallele_stringminor_alleleminor_allele_freqvariation_setPhenotype_description
rs6265301116890389668903896A/GPhenCodeRETINITIS PIGMENTOSA 20
rs6265301116890389668903896A/GPhenCodeLeber congenital amaurosis 2
CM02167416890389668903896HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available