View genomic variant #0000000043

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.68904716T>A
Published as -
GERP 5.150
Segregation -
DB-ID RPE65_000004
MSCV MSCV_0000043
dbSNP ID rs61752904
Frequency -
Sources ;
Reference 14962443
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.
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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 0000000043 ?/? c.907A>T p.(Lys303*) stop_gained - 9/14 - r.(?) -
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ClinVar @ MSeqDR

RCVaccession RCV000022753; RCV000085231;
Chromosome 1:68904716..68904716
ClinVar Allele ID 38827
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.68904716T>A
ClinVar review status criteria provided, single submitter
Clinical Significance Pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported OMIM Allelic Variant:180069.0011
Gene symbol:Gene id. RPE65:6121
Molecular consequence SO:0001587|nonsense
Allele origin germline
dbSNP ID 61752904
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
rs6175290416890471668904716T/APhenCodeLeber congenital amaurosis 2
CM04048316890471668904716HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available