Variant #0000086569 (NC_000003.11:g.9730718A>G, MTMR14(NM_001077525.2):c.1385A>G)

Individual ID 00056353
Chromosome 3
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.9730718A>G
DNA change (hg38) g.9689034A>G
Published as -
ISCN -
DB-ID MTMR14_000002 See all 3 reported entries
Variant remarks -
Reference PubMed: Tosch 2006, OMIM:var0002
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
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 -?/. 16 c.1385A>G r.(?) p.(Tyr462Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000056304 DNA DHPLC;SEQ - - DNM2, MTMR14 2 Johan den Dunnen