View genomic variant #0000001817

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.68897002G>A
Published as -
GERP 5.130
Segregation -
DB-ID RPE65_000007
MSCV MSCV_0001817
dbSNP ID rs34627040
Frequency -
Sources ; clinvar; ensembl;
Reference -
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) 0.0256 View details
Owner LOVD




Variant on transcripts

1 entry on 1 page. Showing entry 1.
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Gene     

Transcript ID     

AscendingTranscript     

Variant ID     

Affects function     

DNA change (cDNA)     

Protein     

GVS function     

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Exon     

PolyPhen     

RNA change     

SIFT     
RPE65 00003147 NM_000329.2 0000001817 +/+ c.1301C>T p.(Ala434Val) missense_variant - 12/14 benign(0.016) r.(?) tolerated(0.55)
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ClinVar @ MSeqDR

RCVaccession RCV000539372; RCV000539372; RCV000085162; RCV000327489;
Chromosome 1:68897002..68897002
Allele frequencies from ESP 0.0256
Allele frequencies from ExAC 0.00699
Allele frequencies from TGP 0.0252
ClinVar Allele ID 104726
Disease database name and identifier MedGen:C1859844, OMIM:204100|MedGen:C3151086, OMIM:613794|MedGen:CN169374|MedGen:CN517202
ClinVar preferred disease name Leber congenital amaurosis 2|Retinitis pigmentosa 20|not specified|not provided
HGVS variant names NC 000001.10:g.68897002G>A
ClinVar review status criteria provided, multiple submitters, no conflicts
Clinical Significance Benign
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported UniProtKB (protein):Q16518#VAR 034477
Gene symbol:Gene id. RPE65:6121
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 34627040
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
rs3462704016889700268897002G/AA0.0137Uniprot phenotype variantsLeber congenital amaurosis type 2
rs3462704016889700268897002G/AA0.0137Uniprot phenotype variantsLeber congenital amaurosis 2
CM99407116889700268897002HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available