Genomic variant #0000442672

Individual ID 00210140
Chromosome 3
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.9710379G>A
DNA change (hg38) -
Published as 418-24A>G
ISCN -
DB-ID MTMR14_000009
Variant remarks -
Reference PubMed: Tosch 2006
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 0.01
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00112 View details
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
MTMR14 NM_001077525.2 -/- 3i c.418-24G>A benign r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000211216 DNA SEQ - - MTMR14 1 Johan den Dunnen