Unique variants in gene MPO

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

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

Reported     

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     
-/. 1 - c.157G>T benign r.(?) p.(Val53Phe) g.56357818C>A - MPO:c.157G>T (V53F) - MPO_000010 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 - c.518A>G pathogenic r.(?) p.(Tyr173Cys) g.56356914T>C - MPO:c.518A>G (Y173C) - MPO_000009 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.608A>C VUS r.(?) p.(Tyr203Ser) g.56356728T>G - MPO:c.608A>C (Y203S) - MPO_000008 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.752T>C - r.(?) p.(Met251Thr) g.56356502A>G - - - MPO_000012 - Papuc et al., submitted - rs56378716 Germline - - - - - Anaïs Begemann
+/. 2 - c.995C>T pathogenic r.(?) p.(Ala332Val) g.56355397G>A - MPO:c.995C>T (A332V) - MPO_000007 VKGL data sharing initiative Nederland; correct HGVS to be checked Papuc et al., submitted - rs28730837 CLASSIFICATION record, Germline - - - - - VKGL-NL_Utrecht, Anaïs Begemann
-?/. 1 - c.1365+7C>T likely benign r.(=) p.(=) g.56352896G>A - MPO:c.1365+7C>T - MPO_000006 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 2 - c.1705C>T pathogenic r.(?) p.(Arg569Trp) g.56350196G>A - MPO:NM_000250.1:c.1705C>T (Arg569Trp), MPO:c.1705C>T (R569W) - MPO_000005 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Rotterdam
-/. 1 - c.2031-6A>C benign r.(=) p.(=) g.56348230T>G - MPO:NM_000250.1:c.2031-6A>C (?) - MPO_000011 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
./., +/. 2 - c.2031-2A>C pathogenic r.spl? p.? g.56348226T>G - MPO:c.2031-2A>C, MPO:NM_000250.1:c.2031-2A>C (?) - MPO_000004 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-/. 1 - c.2133C>T benign r.(=) p.(=) g.56348122G>A - MPO:c.2133C>T (=) - MPO_000003 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.2149A>G benign r.(?) p.(Ile717Val) g.56348106T>C - MPO:c.2149A>G (I717V) - MPO_000002 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
./. 1 - c.2174G>A - r.(?) p.(Arg725Gln) g.56348081C>T - MPO:c.2174G>A (R725Q) - MPO_000001 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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