All transcript variants in gene MEF2C

Information The variants shown are described using the NM_002397.4 transcript reference sequence.

1 entry on 1 page. Showing entry 1.
Legend  

Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+?/. - c.104T>C Likely pathogenic r.(?) p.(Leu35Pro) g.88100569A>G g.88804752A>G - - MEF2C_000002 - - - - De novo yes - - 0 - Wenjuan Qiu
Legend