Full data view for gene MTAP

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

12 entries on 1 page. Showing entries 1 - 12.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.39A>C r.(?) p.(Gly13=) Unknown - likely benign g.21815437A>C g.21815438A>C MTAP(NM_002451.3):c.39A>C (p.G13=) - MTAP_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.136A>C r.(?) p.(Ile46Leu) Unknown - likely benign g.21816728A>C g.21816729A>C MTAP(NM_002451.3):c.136A>C (p.I46L) - MTAP_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.179+12T>A r.(=) p.(=) Unknown - likely benign g.21816783T>A g.21816784T>A MTAP(NM_002451.3):c.179+12T>A - MTAP_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.227C>T r.(?) p.(Ala76Val) Unknown - VUS g.21818081C>T g.21818082C>T MTAP(NM_002451.3):c.227C>T (p.A76V) - MTAP_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.339C>T r.(?) p.(Phe113=) Unknown - likely benign g.21818193C>T g.21818194C>T MTAP(NM_002451.3):c.339C>T (p.F113=) - MTAP_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.566G>T r.(?) p.(Trp189Leu) Parent #1 - likely benign g.21854745G>T g.21854746G>T - - MTAP_000009 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs184520335 Germline - 2/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 2 Mohammed Faruq
-/. - c.768T>G r.(?) p.(Pro256=) Unknown - benign g.21859379T>G g.21859380T>G MTAP(NM_002451.3):c.768T>G (p.P256=) - MTAP_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 8i c.813-2A>G r.spl?  p.= Paternal (confirmed) - 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 - DNA RT-PCR, SEQ-NG - - BBDS - PubMed: Camacho-Vanegas 2012 - M - Australia - - 0 - - 1 Johan den Dunnen
+/. 8i c.813-2A>G r.spl?  p.= Maternal (confirmed) - 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 - DNA RT-PCR, SEQ-NG - - BBDS - PubMed: Camacho-Vanegas 2012 - M - - - - 0 - - 1 Johan den Dunnen
+/. 9 c.885A>G r.spl?  p.= Maternal (confirmed) - pathogenic g.21862046A>G g.21862047A>G - - MTAP_000002 numbering relative to EST clone AK309365; not in 1000 control chromosomes Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Camacho-Vanegas 2012 - - Germline - - - 0 - DNA RT-PCR, SEQ-NG - - BBDS - PubMed: Camacho-Vanegas 2012 - M - United States - - 0 - - 1 Johan den Dunnen
+/. 9 c.885A>G r.spl?  p.= Maternal (confirmed) - pathogenic g.21862046A>G g.21862047A>G - - MTAP_000002 numbering relative to EST clone AK309365 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Camacho-Vanegas 2012 - - Germline - - - 0 - DNA RT-PCR, SEQ-NG - - BBDS - PubMed: Camacho-Vanegas 2012 - F - United States - - 0 - - 1 Johan den Dunnen
+/. 9 c.885A>G r.spl?  p.= Maternal (confirmed) - pathogenic g.21862046A>G g.21862047A>G - - MTAP_000002 numbering relative to EST clone AK309365 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Camacho-Vanegas 2012 - - Germline - - - 0 - DNA RT-PCR, SEQ-NG - - BBDS - PubMed: Camacho-Vanegas 2012 - M - United States - - 0 - - 1 Johan den Dunnen
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