Variant #0000286242 (NC_000005.9:g.88025855_88025856del, MEF2C(NM_002397.4):c.834+181_834+182del)

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.88025855_88025856del
DNA change (hg38) g.88730038_88730039del
Published as MEF2C(NM_002397.4):c.834+181_834+182delTT
ISCN -
DB-ID MEF2C_000009
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.834+181_834+182del r.(=) p.(=)