Variant #0000357956 (NC_000020.10:g.44048803G>C, NM_015937.5:c.709G>C (PIGT))

Individual ID 00155226
Chromosome 20
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.44048803G>C
DNA change (hg38) g.45420163G>C
Published as -
ISCN -
DB-ID PIGT_000025 See all 2 reported entries
Variant remarks -
Reference PubMed: Pagnamenta et al. 2017
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 7.0E-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 2018-03-15 22:28:26 +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.709G>C r.(?) p.(Glu237Gln)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000156090 DNA SEQ-NG - WES - 1 Philippe Campeau


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