View genomic variant #0000000043

Chromosome 1
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.68904716T>A
Published as -
GERP 5.150
Segregation -
DB-ID RPE65_000004
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


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     
RPE65 NM_000329.2 ?/? c.907A>T p.(Lys303*) stop_gained - 9/14 - r.(?) -


ClinVar @ MSeqDR

38827
MedGen:C1859844,OMIM:204100|MedGen:CN517202
Leber congenital amaurosis 2|not provided
HGVS variant names NC 000001.10:g.68904716T>A
criteria provided, single submitter
Clinical Significance
single nucleotide variant
SO:0001483
OMIM Allelic Variant:180069.0011
Gene symbol:Gene id. RPE65:6121
SO:0001587|nonsense
1
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