Variant #0000576489 (NC_000023.10:g.50377101T>C, SHROOM4(NM_020717.3):c.1972A>G)

Chromosome X
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.50377101T>C
DNA change (hg38) g.50634101T>C
Published as SHROOM4(NM_020717.3):c.1972A>G (p.M658V, p.(Met658Val))
ISCN -
DB-ID SHROOM4_000054 See all 2 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) 0.00113 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SHROOM4 NM_020717.3 -?/. - c.1972A>G r.(?) p.(Met658Val)