Variant #0000438450 (NC_000020.10:g.44047988A>C, NM_015937.5:c.547A>C (PIGT))

Individual ID 00207529
Chromosome 20
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.44047988A>C
DNA change (hg38) g.45419348A>C
Published as NM_015937.5:c.547A>C, p.Thr183Pro
ISCN -
DB-ID PIGT_000001 See all 2 reported entries
Variant remarks CADD score: 26.4
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Philippe Campeau
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Philippe Campeau
Date created 2018-11-23 19:08:06 +01:00 (CET)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PIGT NM_015937.5 +/. - c.547A>C r.(?) p.(Thr183Pro)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000208567 DNA ? - - PIGT 1 Philippe Campeau


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