Variant #0000866120 (NC_000019.9:g.39948381G>A, SUPT5H(NM_003169.3):c.307+1G>A)

Chromosome 19
Allele Unknown
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.39948381G>A
DNA change (hg38) -
Published as SUPT5H(NM_003169.3):c.307+1G>A (p.?)
ISCN -
DB-ID SUPT5H_000024
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) Retrieve
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Date created 2022-05-09 16:01:56 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SUPT5H NM_003169.3 +?/. - c.307+1G>A r.spl? p.?