Variant #0000002917 (NC_000001.10:g.40557847A>G, PPT1(NM_000310.3):c.235-3T>C)

Individual ID 00002917
Chromosome 1
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.40557847A>G
Reference Kousi M1, Lehesjoki AE, Mole SE.(2012)
DB-ID PPT1_000054
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     
PPT1 NM_000310.3 ./. 2i c.235-3T>C r.spl? p.? VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000002917 ? ? PPT1 1 Y Yang