Genomic variant #0000442683

Individual ID 00210151
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.9726425G>C
DNA change (hg38) -
Published as 1051-147G>C
ISCN -
DB-ID MTMR14_000020
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) Variant not found in online data sets
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
MTMR14 NM_001077525.2 -/- 11i c.1050+71G>C benign r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000211227 DNA SEQ - - MTMR14 1 Johan den Dunnen