View genomic variant #0000000041

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.68897011T>C
Published as -
GERP 5.130
Segregation -
DB-ID RPE65_000002
MSCV MSCV_0000041
dbSNP ID rs62636300
Frequency -
Sources ;
Reference 14962443
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) Variant not found in online data sets
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 0000000041 ?/? c.1292A>G p.(Tyr431Cys) missense_variant - 12/14 probably_damaging(0.992) r.(?) deleterious(0)
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ClinVar @ MSeqDR

RCVaccession RCV000022754; RCV000085161;
Chromosome 1:68897011..68897011
Allele frequencies from ExAC 0.00001
ClinVar Allele ID 38828
Disease database name and identifier MedGen:C1859844, OMIM:204100|MedGen:CN517202
ClinVar preferred disease name Leber congenital amaurosis 2|not provided
HGVS variant names NC 000001.10:g.68897011T>C
ClinVar review status no assertion criteria provided
Clinical Significance Pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported OMIM Allelic Variant:180069.0012|UniProtKB (protein):Q16518#VAR 018151
Gene symbol:Gene id. RPE65:6121
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 62636300
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
rs6263630016889701168897011T/CPhenCodeLeber congenital amaurosis 2
CM04048416889701168897011HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available