Variant #0000002668 (NC_000011.9:g.6637544A>C, TPP1(NM_000391.3):c.1075+2T>G)

Individual ID 00002668
Chromosome 11
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.6637544A>C
Reference Sleat et al. 1999 Am J Hum Genet 64:1511-1523
DB-ID TPP1_000042
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 ./. 8i c.1075+2T>G r.spl? p.? VariO:0136 DNA substitution; VariO:0316 transversion -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000002668 ? ? TPP1 1 Y Yang