Genomic variant #0000000041

Chromosome 1
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.68897011T>C
Published as -
GERP 5.130
Segregation -
DB-ID RPE65_000002
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


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     
RPE65 NM_000329.2 ?/? c.1292A>G p.(Tyr431Cys) missense_variant - 12/14 probably_damaging(0.992) r.(?) deleterious(0)


ClinVar @ MSeqDR

0.00001
38828
MedGen:C1859844,OMIM:204100|MedGen:CN517202
Leber congenital amaurosis 2|not provided
HGVS variant names NC 000001.10:g.68897011T>C
no assertion criteria provided
Clinical Significance
single nucleotide variant
SO:0001483
OMIM Allelic Variant:180069.0012|UniProtKB (protein):Q16518#VAR 018151
Gene symbol:Gene id. RPE65:6121
SO:0001583|missense variant
1
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