Full data view for gene PMM2

Information The variants shown are described using the NM_000303.2 transcript reference sequence.

9 entries on 1 page. Showing entries 1 - 9.
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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     
?/. 7 c.590A>C r.(?) p.(Glu197Ala) Unknown - VUS g.8906914A>C g.8813057A>C - - PMM2_000049 - PubMed: Bell 2011 - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. 7 c.590A>C r.(?) p.(Glu197Ala) Unknown - VUS g.8906914A>C g.8813057A>C - - PMM2_000049 - PubMed: Bell 2011 - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. 7 c.590A>C r.(?) p.(Glu197Ala) Unknown - VUS g.8906914A>C g.8813057A>C - - PMM2_000049 - PubMed: Bell 2011 - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. 7 c.590A>C r.(?) p.(Glu197Ala) Unknown - VUS g.8906914A>C g.8813057A>C - - PMM2_000049 - PubMed: Bell 2011 - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. 7 c.590A>C r.(?) p.(Glu197Ala) Unknown - VUS g.8906914A>C g.8813057A>C - - PMM2_000049 - PubMed: Bell 2011 - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. 7 c.590A>C r.(?) p.(Glu197Ala) Unknown - VUS g.8906914A>C g.8813057A>C - - PMM2_000049 - PubMed: Bell 2011 - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
-/. - c.590A>C r.(?) p.(Glu197Ala) Unknown - benign g.8906914A>C g.8813057A>C PMM2(NM_000303.2):c.590A>C (p.E197A) - PMM2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.590A>C r.(?) p.(Glu197Ala) Unknown - benign g.8906914A>C g.8813057A>C PMM2(NM_000303.2):c.590A>C (p.E197A) - PMM2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.590A>C r.(?) p.(Glu197Ala) Unknown - likely benign g.8906914A>C g.8813057A>C PMM2(NM_000303.2):c.590A>C (p.E197A) - PMM2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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