All transcript variants in gene MPO

Information The variants shown are described using the NM_000250.1 transcript reference sequence.

7 entries on 1 page. Showing entries 1 - 7.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     
-/. - c.2031-6A>C benign r.(=) p.(=) g.56348230T>G - MPO(NM_000250.1):c.2031-6A>C (p.?) - MPO_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.2031-2A>C pathogenic r.spl? p.? g.56348226T>G - MPO(NM_000250.1):c.2031-2A>C (p.?) - MPO_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.2031-2A>C pathogenic r.spl? p.? g.56348226T>G - MPO(NM_000250.1):c.2031-2A>C (p.?) - MPO_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/. - c.2031-2A>C likely pathogenic r.spl? p.? g.56348226T>G - MPO(NM_000250.1):c.2031-2A>C (p.?) - MPO_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
./. - c.2031-2A>C VUS r.[2029-109_2029-1ins;2029-2a>c] p.R677Wfs*73 g.56348226T>G g.58270865T>G - - MPO_000004 - PubMed: Lhota 2016 - rs35897051 Germline - - - 0 - Zdenek Kleibl
./. - c.2031-2A>C VUS r.[2029-109_2029-1ins;2029-2a>c] p.R677Wfs*73 g.56348226T>G g.58270865T>G - - MPO_000004 - PubMed: Lhota 2016 - rs35897051 Germline - - - 0 - Zdenek Kleibl
./. - c.2031-2A>C VUS r.[2029-109_2029-1ins;2029-2a>c] p.R677Wfs*73 g.56348226T>G g.58270865T>G - - MPO_000004 - PubMed: Lhota 2016 - rs35897051 Germline - - - 0 - Zdenek Kleibl
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