Genomic variant #0000086568

Individual ID 00056342
Chromosome 3
Allele Paternal (confirmed)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.9726311G>A
DNA change (hg38) g.9684627G>A
Published as -
ISCN -
DB-ID MTMR14_000001 See all 2 reported entries
Variant remarks not in 820 control chromosomes; carrier father unaffected
Reference PubMed: Tosch 2006, OMIM:var0001
ClinVar ID -
dbSNP ID rs121434509
Origin Germline
Segregation -
Frequency 1/50 cases CNM
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 +?/. 11 c.1007G>A - r.(?) p.(Arg336Gln)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000056293 DNA DHPLC;SEQ;Southern - - DNM2, MTMR14 1 Johan den Dunnen