Variant #0000567319 (NC_000019.9:g.39959798T>C, SUPT5H(NM_003169.3):c.1223T>C)

Chromosome 19
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.39959798T>C
DNA change (hg38) g.39469158T>C
Published as SUPT5H(NM_001111020.2):c.1223T>C (p.(Val408Ala))
ISCN -
DB-ID SUPT5H_000007
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 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Date created 2019-07-18 18:22:55 +02:00 (CEST)
Date last edited 2020-03-23 16:13:27 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SUPT5H NM_003169.3 ?/. - c.1223T>C r.(?) p.(Val408Ala)