View genomic variant #0000000044

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.68905269G>A
Published as -
GERP 5.800
Segregation -
DB-ID RPE65_000005
MSCV MSCV_0000044
dbSNP ID rs61752895
Frequency -
Sources ;
Reference 9326927
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.
Legend  

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 0000000044 ?/? c.700C>T p.(Arg234*) stop_gained - 7/14 - r.(?) -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000013993; RCV000085219;
Chromosome 1:68905269..68905269
Allele frequencies from ExAC 0.00002
ClinVar Allele ID 28153
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.68905269G>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:180069.0002
Gene symbol:Gene id. RPE65:6121
Molecular consequence SO:0001587|nonsense
Allele origin germline
dbSNP ID 61752895
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
rs6175289516890526968905269G/APhenCodeLeber congenital amaurosis 2
CM97131516890526968905269HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available