Variant #0000576478 (NC_000023.10:g.50350727dup, SHROOM4(NM_020717.3):c.3415dup)

Chromosome X
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.50350727dup
DNA change (hg38) g.50607727dup
Published as SHROOM4(NM_020717.3):c.3415dup (p.(Glu1139Glyfs*39)), SHROOM4(NM_020717.3):c.3415dupG (p.E1139Gfs*39)
ISCN -
DB-ID SHROOM4_000041 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) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SHROOM4 NM_020717.3 -/. - c.3415dup r.(?) p.(Glu1139GlyfsTer39)