Variant #0000002694 (NC_000011.9:g.6635790_6635791delAG, TPP1(NM_000391.3):c.1678_1679delCT)

Individual ID 00002694
Chromosome 11
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.6635790_6635791delAG
Reference Sleat et al. 1999 Am J Hum Genet 64:1511-1523;A. Burkina pers comm
DB-ID TPP1_000068
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 ./. 13 c.1678_1679delCT r.(?) p.(Leu560Thrfs*47) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000002694 ? ? TPP1 1 Y Yang