View genomic variant #0000000040

Chromosome 1
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.68895518G>A
Published as -
GERP 3.140
Segregation -
DB-ID RPE65_000001
dbSNP ID rs121917745
Frequency -
Sources ;
Reference 15557452
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.1543C>T p.(Arg515Trp) missense_variant - 14/14 probably_damaging(1) r.(?) deleterious(0)


ClinVar @ MSeqDR

0.00002
28159
MeSH:D012174,MedGen:C0035334,OMIM:268000,Orphanet:ORPHA791,SNOMED CT:28835009|MedGen:C1859844,OMIM:204100|MedGen:C3151086,OMIM:613794|MedGen:CN517202
Retinitis pigmentosa|Leber congenital amaurosis 2|Retinitis pigmentosa 20|not provided
HGVS variant names NC 000001.10:g.68895518G>A
no assertion criteria provided
Clinical Significance
single nucleotide variant
SO:0001483
OMIM Allelic Variant:180069.0008,UniProtKB (protein):Q16518#VAR 037619
Gene symbol:Gene id. RPE65:6121
SO:0001583|missense variant
1
dbSNP ID 121917745
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
rs12191774516889551868895518G/AOMIM phenotype variantsRETINITIS PIGMENTOSA 20
rs12191774516889551868895518G/AOMIM phenotype variantsLeber congenital amaurosis 2
CM04519316889551868895518HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available