Variant #0000565037 (NC_000018.9:g.48255670A>G, MAPK4(NM_002747.3):c.1210A>G)

Chromosome 18
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.48255670A>G
DNA change (hg38) g.50729300A>G
Published as MAPK4(NM_002747.4):c.1210A>G (p.S404G)
ISCN -
DB-ID MAPK4_000001
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 No license selected
Created by VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MAPK4 NM_002747.3 ?/. - c.1210A>G r.(?) p.(Ser404Gly)