All variants in the MTAP gene

Information The variants shown are described using the NM_002451.3 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/. 8i c.813-2A>G r.spl?  p.= - pathogenic g.21859422A>G g.21859423A>G - - MTAP_000001 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. PubMed: Camacho-Vanegas 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 8i c.813-2A>G r.spl?  p.= - pathogenic g.21859422A>G g.21859423A>G - - MTAP_000001 numbering relative to EST clone AK309365 Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Camacho-Vanegas 2012 - - Germline - - - 0 - Johan den Dunnen
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