View genomic variant #0000000042

Chromosome 1
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.68903896A>G
Published as -
GERP 5.710
Segregation -
DB-ID RPE65_000003
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


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

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


ClinVar @ MSeqDR

0.0001
0.00007
38825
MedGen:C1859844,OMIM:204100|MedGen:C3151086,OMIM:613794|MedGen:CN239301|MedGen:CN517202
Leber congenital amaurosis 2|Retinitis pigmentosa 20|RPE65-Related Disorders|not provided
HGVS variant names NC 000001.10:g.68903896A>G
criteria provided, single submitter
Clinical Significance
single nucleotide variant
SO:0001483
Illumina Clinical Services Laboratory,Illumina:559675,OMIM Allelic Variant:180069.0009,UniProtKB (protein):Q16518#VAR 017139
Gene symbol:Gene id. RPE65:6121
SO:0001583|missense variant
1
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