Full data view for gene MPO

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

15 entries on 1 page. Showing entries 1 - 15.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. - c.157G>T benign r.(?) p.(Val53Phe) Unknown g.56357818C>A - MPO:c.157G>T (V53F) - MPO_000010 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.518A>G pathogenic r.(?) p.(Tyr173Cys) Unknown g.56356914T>C - MPO:c.518A>G (Y173C) - MPO_000009 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.608A>C VUS r.(?) p.(Tyr203Ser) Unknown g.56356728T>G - MPO:c.608A>C (Y203S) - MPO_000008 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.752T>C - r.(?) p.(Met251Thr) Maternal (confirmed) g.56356502A>G - - - MPO_000012 - Papuc et al., submitted - rs56378716 Germline - - - 0 - DNA SEQ-NG-I blood WES EE 73450 - mother German, father Swiss/Ghanaian M no Germany;Ghana;Switzerland - - 0 - - 1 Anaïs Begemann
+/. - c.995C>T pathogenic r.(?) p.(Ala332Val) Unknown g.56355397G>A - MPO:c.995C>T (A332V) - MPO_000007 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.995C>T - r.(?) p.(Ala332Val) Paternal (confirmed) g.56355397G>A - - - MPO_000007 - Papuc et al., submitted - rs28730837 Germline - - - 0 - DNA SEQ-NG-I blood WES EE 73450 - mother German, father Swiss/Ghanaian M no Germany;Ghana;Switzerland - - 0 - - 1 Anaïs Begemann
-?/. - c.1365+7C>T likely benign r.(=) p.(=) Unknown g.56352896G>A - MPO:c.1365+7C>T - MPO_000006 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1705C>T pathogenic r.(?) p.(Arg569Trp) Unknown g.56350196G>A - MPO:c.1705C>T (R569W) - MPO_000005 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1705C>T pathogenic r.(?) p.(Arg569Trp) Unknown g.56350196G>A - MPO:NM_000250.1:c.1705C>T (Arg569Trp) - MPO_000005 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2031-6A>C benign r.(=) p.(=) Unknown 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 - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.2031-2A>C - r.spl? p.? Unknown g.56348226T>G - MPO:c.2031-2A>C - MPO_000004 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.2031-2A>C pathogenic r.spl? p.? Unknown g.56348226T>G - MPO:NM_000250.1:c.2031-2A>C (?) - MPO_000004 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2133C>T benign r.(=) p.(=) Unknown g.56348122G>A - MPO:c.2133C>T (=) - MPO_000003 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2149A>G benign r.(?) p.(Ile717Val) Unknown g.56348106T>C - MPO:c.2149A>G (I717V) - MPO_000002 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.2174G>A - r.(?) p.(Arg725Gln) Unknown g.56348081C>T - MPO:c.2174G>A (R725Q) - MPO_000001 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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