Variant #0000174303 (NC_000009.11:g.21859422A>G, MTAP(NM_002451.3):c.813-2A>G)

Individual ID 00107908
Chromosome 9
Allele Paternal (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.21859422A>G
DNA change (hg38) g.21859423A>G
Published as -
ISCN -
DB-ID MTAP_000001 See all 2 reported entries
Variant remarks numbering relative to EST clone AK309365; not in 1000 control chromosomes
Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message.
Reference PubMed: Camacho-Vanegas 2012
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license No license selected
Created by Helger Yntema
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MTAP NM_002451.3 +/. 8i c.813-2A>G r.spl?  p.=



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000108377 DNA RT-PCR;SEQ-NG - - MTAP 1 Johan den Dunnen