Variant #0000442678 (NC_000003.11:g.9719866del, MTMR14(NM_001077525.2):c.897+124del)

Individual ID 00210146
Chromosome 3
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.9719866del
DNA change (hg38) g.9678182del
Published as 897+125delC
ISCN -
DB-ID MTMR14_000034
Variant remarks -
Reference PubMed: Tosch 2006
ClinVar ID -
dbSNP ID rs145599359
Origin Germline
Segregation -
Frequency 0.03
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MTMR14 NM_001077525.2 -/- 9i c.897+124del r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000211222 DNA SEQ - - MTMR14 1 Johan den Dunnen