Genomic variant #0000050281

Individual ID 00027153
Chromosome 13
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.113739210A>G
DNA change (hg38) g.113084896A>G
Published as -
ISCN -
DB-ID MCF2L_000001
Variant remarks patient has 4 carrier sibs (F, 3M) with variant and same premature MI phenotype and an unaffected sib without variant and phenotype
Reference -
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 M. Mahdi Motazacker




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
MCF2L NM_001112732.2 ?/. 19 c.2066A>G - r.(?) p.(Glu689Gly)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000027156 DNA SEQ;SEQ-NG-I DNA from blood - - 1 M. Mahdi Motazacker