View genomic variant #0000001817

Chromosome 1
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.68897002G>A
Published as -
GERP 5.130
Segregation -
DB-ID RPE65_000007
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


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

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


ClinVar @ MSeqDR

0.0256
0.00699
0.0252
104726
MedGen:C1859844,OMIM:204100|MedGen:C3151086,OMIM:613794|MedGen:CN169374|MedGen:CN517202
Leber congenital amaurosis 2|Retinitis pigmentosa 20|not specified|not provided
HGVS variant names NC 000001.10:g.68897002G>A
criteria provided, multiple submitters, no conflicts
Clinical Significance
single nucleotide variant
SO:0001483
UniProtKB (protein):Q16518#VAR 034477
Gene symbol:Gene id. RPE65:6121
SO:0001583|missense variant
1
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