Variant #0000334157 (NC_000023.10:g.50350728_50350730del, SHROOM4(NM_020717.3):c.3426_3428del)

Chromosome X
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.50350728_50350730del
DNA change (hg38) g.50607728_50607730del
Published as SHROOM4(NM_020717.3):c.3426_3428del (p.?)
ISCN -
DB-ID SHROOM4_000037
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SHROOM4 NM_020717.3 ?/. - c.3426_3428del r.(?) p.(Glu1151del)