Variant #0000444460 (NC_000023.10:g.149765005del, MTM1(NM_000252.2):c.107del)

Individual ID 00211508
Chromosome X
Allele Maternal (inferred)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.149765005del
DNA change (hg38) g.150596541del
Published as 106delC
ISCN -
DB-ID MTM1_000019 See all 2 reported entries
Variant remarks -
Reference PubMed: Herman 2002
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Jorge Oliveira
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MTM1 NM_000252.2 +/. 3 c.107del r.(?) p.(Pro36Leufs*8)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000212584 DNA SEQ - - MTM1 1 Jorge Oliveira