Variant #0000086568 (NC_000003.11:g.9726311G>A, MTMR14(NM_001077525.2):c.1007G>A)

Individual ID 00056342
Chromosome 3
Allele Paternal (confirmed)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
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 -
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2015-12-12 02:29:04 +01:00 (CET)
Date last edited 2015-12-12 02:47:10 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

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