Variant #0000438451 (NC_000020.10:g.44047991G>A, NM_015937.5:c.550G>A (PIGT))

Individual ID 00207530
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.44047991G>A
DNA change (hg38) g.45419351G>A
Published as -
ISCN -
DB-ID PIGT_000026 See all 2 reported entries
Variant remarks This missense variant was predicted to be likely pathogenic (Proven, Intervar, Polyphen 2, Sift, Mutationtaster, M-CAP, REVEL).
Reference -
ClinVar ID -
dbSNP ID rs774753616
Origin Germline
Segregation -
Frequency MAF: 0.00001626
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
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 19:13:40 +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 +/. 4 c.550G>A r.(?) p.(Glu184Lys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000208569 DNA PCRq;SEQ;SEQ-NG-I - - PIGT 2 Philippe Campeau


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