Variant #0000915380 (NC_000020.10:g.44054349T>C, NM_015937.5:c.1620T>C (PIGT))

Chromosome 20
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.44054349T>C
DNA change (hg38) -
Published as PIGT(NM_015937.6):c.1620T>C (p.Y540=)
ISCN -
DB-ID PIGT_000055
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.73798 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
Date created 2023-01-11 15:44:22 +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.1620T>C r.(?) p.(Tyr540=)


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