Variant #0000729010 (NC_000023.10:g.50376593T>C, SHROOM4(NM_020717.3):c.2480A>G)

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.50376593T>C
DNA change (hg38) -
Published as SHROOM4(NM_020717.3):c.2480A>G (p.D827G)
ISCN -
DB-ID SHROOM4_000115
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) 7.0E-5 View details
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.2480A>G r.(?) p.(Asp827Gly)