View genomic variant #0000001820

Chromosome 1
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.68904660A>C
Published as -
GERP -0.301
Segregation -
DB-ID RPE65_000006
MSCV MSCV_0001820
dbSNP ID rs149916178
Frequency -
Sources ; clinvar; ensembl;
Reference 19431183;23757202
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) 0.00077 View details
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 0000001820 -/- c.963T>G p.(Asn321Lys) missense_variant - 9/14 benign(0.029) r.(?) tolerated(0.12)
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000085235;
Chromosome 1:68904661..68904661
ClinVar Allele ID 104792
Disease database name and identifier MedGen:CN517202
ClinVar preferred disease name not provided
HGVS variant names NC 000001.10:g.68904661dupT
ClinVar review status no assertion provided
Clinical Significance not provided
Variant type Duplication
Sequence Ontology for variant type SO:1000035
Gene symbol:Gene id. RPE65:6121
Molecular consequence SO:0001589|frameshift variant
dbSNP ID 61752906
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

RCVaccession RCV000078656;
Chromosome 1:68904660..68904660
Allele frequencies from ESP 0.0008
Allele frequencies from ExAC 0.00536
Allele frequencies from TGP 0.0050
ClinVar Allele ID 98767
Disease database name and identifier MedGen:CN169374
ClinVar preferred disease name not specified
HGVS variant names NC 000001.10:g.68904660A>C
ClinVar review status criteria provided, single submitter
Clinical Significance Benign
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported HGMD:CM003833|UniProtKB (protein):Q16518#VAR 017136
Gene symbol:Gene id. RPE65:6121
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 149916178
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
rs14991617816890466068904660A/CC0.0009Uniprot phenotype variantsLeber congenital amaurosis 2
CI98380816890466068904659HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available
CM00383316890466068904660HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available