Genomic variant #0000465553

Individual ID 00226266
Chromosome 5
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.88047792G>C
DNA change (hg38) -
Published as -
ISCN -
DB-ID MEF2C_000023
Variant remarks -
Reference PubMed: Yuan 2017
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Jilani Jawaid
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
MEF2C NM_002397.4 +/. - c.471C>G pathogenic r.(?) p.(Tyr157*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000227333 DNA SEQ blood - MEF2C 1 Jilani Jawaid