Variant #0000576497 (NC_000023.10:g.50378443C>A, SHROOM4(NM_020717.3):c.630G>T)

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.50378443C>A
DNA change (hg38) g.50635443C>A
Published as SHROOM4(NM_020717.3):c.630G>T (p.E210D)
ISCN -
DB-ID SHROOM4_000094
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) Variant not found in online data sets
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SHROOM4 NM_020717.3 ?/. - c.630G>T r.(?) p.(Glu210Asp)