Variant #0000002662 (NC_000011.9:g.6637632_6637634delinsGAG, TPP1(NM_000391.3):c.987_989delinsCTC)

Individual ID 00002662
Chromosome 11
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.6637632_6637634delinsGAG
Reference Mila pers comm
DB-ID TPP1_000036
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     
TPP1 NM_000391.3 ./. 8 c.987_989delinsCTC r.(?) p.(Glu329_Asp330delinsAspSer) VariO:0143 DNA indel VariO:0029 sequence retaining amino acid indel



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000002662 ? ? TPP1 1 Y Yang