Variant #0000609827 (NC_000005.9:g.88024416A>G, MEF2C(NM_002397.4):c.994T>C)

Chromosome 5
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.88024416A>G
DNA change (hg38) g.88728599A>G
Published as MEF2C(NM_002397.4):c.994T>C (p.S332P)
ISCN -
DB-ID MEF2C_000034
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL_Groningen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MEF2C NM_002397.4 ?/. - c.994T>C r.(?) p.(Ser332Pro)