Variant #0000003750 (NC_000006.11:g.162206876_162206877insT, PARK2(NM_004562.2):c.798_799insA)

Individual ID 00003750
Chromosome 6
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.162206876_162206877insT
Reference Padmaja MV1, Jayaraman M, Srinivasan AV, Srisailapathy CR, Ramesh A.(2012)
DB-ID PARK2_000139
Frequency -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Y Yang
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Y Yang
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
PARK2 NM_004562.2 ./. 7 c.798_799insA r.(?) p.(Tyr267Ilefs*8) VariO:0142 DNA insertion VariO:0023 amphigoric amino acid indel



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000003750 ? ? PARK2 1 Y Yang