Variant #0000286236 (NC_000005.9:g.88018316T>C, MEF2C(NM_002397.4):c.*105A>G)

Chromosome 5
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.88018316T>C
DNA change (hg38) g.88722499T>C
Published as MEF2C(NM_002397.4):c.*105A>G
ISCN -
DB-ID MEF2C_000005
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL_Utrecht
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MEF2C NM_002397.4 -/. - c.*105A>G r.(=) p.(=)