Variant #0000727697 (NC_000020.10:g.44045246T>A, NM_015937.5:c.277T>A (PIGT))

Chromosome 20
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.44045246T>A
DNA change (hg38) -
Published as PIGT(NM_015937.6):c.277T>A (p.F93I)
ISCN -
DB-ID PIGT_000044
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) 2.0E-5 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 2021-02-08 18:36:18 +01:00 (CET)
Date last edited 2021-09-17 14:40:49 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PIGT NM_015937.5 ?/. - c.277T>A r.(?) p.(Phe93Ile)


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