Variant #0000002671 (NC_000011.9:g.6637274A>G, TPP1(NM_000391.3):c.1107T>C)

Individual ID 00002671
Chromosome 11
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.6637274A>G
Reference Sleat et al. 1997 Science 277:1802-1805;Sleat et al. 1999 Am J Hum Genet 64:1511-1523
DB-ID TPP1_000045
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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
TPP1 NM_000391.3 ./. 9 c.1107T>C r.(=) p.(=) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000002671 ? ? TPP1 1 Y Yang