View genomic variant #0000000040

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.68895518G>A
Published as -
GERP 3.140
Segregation -
DB-ID RPE65_000001
MSCV MSCV_0000040
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

1 entry on 1 page. Showing entry 1.


Transcript ID     


Variant ID     

Affects function     

DNA change (cDNA)     


GVS function     




RNA change     

RPE65 00003147 NM_000329.2 0000000040 ?/? c.1543C>T p.(Arg515Trp) missense_variant - 14/14 probably_damaging(1) r.(?) deleterious(0)

ClinVar @ MSeqDR

RCVaccession RCV000014000; RCV000132583; RCV000013999; RCV000085176;
Chromosome 1:68895518..68895518
Allele frequencies from ExAC 0.00002
ClinVar Allele ID 28159
Disease database name and identifier Human Phenotype Ontology:HP:0000547, MeSH:D012174, MedGen:C0035334, OMIM:268000, Orphanet:ORPHA791, SNOMED CT:28835009|MedGen:C1859844, OMIM:204100|MedGen:C3151086, OMIM:613794|MedGen:CN517202
ClinVar preferred disease name Retinitis pigmentosa|Leber congenital amaurosis 2|Retinitis pigmentosa 20|not provided
HGVS variant names NC 000001.10:g.68895518G>A
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:180069.0008|UniProtKB (protein):Q16518#VAR 037619
Gene symbol:Gene id. RPE65:6121
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 121917745
Variant Flags

ClinVar @ MSeqDR as full content XML tree

MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:


Ensembl Variant Phenotype Information:

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