Variant #0000689713 (NC_000006.11:g.32821022A>G, NM_000593.5:c.572T>C (TAP1))

Chromosome 6
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.32821022A>G
DNA change (hg38) -
Published as TAP1(NM_000593.5):c.572T>C (p.L191P), TAP1(NM_000593.6):c.392T>C (p.L131P)
ISCN -
DB-ID PSMB9_000003 See all 3 reported entries
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) 0.00111 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2020-09-15 15:50:26 +02:00 (CEST)
Date last edited 2023-01-11 15:44:22 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TAP1 NM_000593.5 ?/. - c.572T>C r.(?) p.(Leu191Pro)
PSMB9 NM_002800.4 ?/. - c.-985A>G r.(?) p.(=)


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