Variant #0000444469 (NC_000023.10:g.149765035G>A, MTM1(NM_000252.2):c.136+1G>A)

Individual ID 00211516
Chromosome X
Allele Maternal (confirmed)
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.149765035G>A
DNA change (hg38) g.150596571G>A
Published as -
ISCN -
DB-ID MTM1_000022
Variant remarks affects donor splice site, genetic test performed in mother
Reference PubMed: Buj-Bello 1999
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 +/. 3i c.136+1G>A r.spl p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000212592 DNA SSCA;SEQ - - MTM1 1 Jorge Oliveira