Variant #0000286240 (NC_000005.9:g.88100593C>G, MEF2C(NM_002397.4):c.80G>C)

Chromosome 5
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.88100593C>G
DNA change (hg38) g.88804776C>G
Published as MEF2C(NM_002397.4):c.80G>C (p.G27A)
ISCN -
DB-ID MEF2C_000016
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.80G>C r.(?) p.(Gly27Ala)