Variant #0000442687 (NC_000003.11:g.9727002G>C, MTMR14(NM_001077525.2):c.1164+71G>C)

Individual ID 00210155
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.9727002G>C
DNA change (hg38) g.9685318G>C
Published as -
ISCN -
DB-ID MTMR14_000024
Variant remarks -
Reference PubMed: Tosch 2006
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 0.22
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.14192 View details
Owner Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MTMR14 NM_001077525.2 -/- 13i c.1164+71G>C r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000211231 DNA SEQ - - MTMR14 1 Johan den Dunnen