Unique variants in gene PMM1

Information The variants shown are described using the NM_002676.2 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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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.694G>A VUS r.(?) p.(Asp232Asn) g.41973417C>T - PMM1(NM_002676.3):c.694G>A (p.D232N) - CSDC2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.705T>C likely benign r.(?) p.(=) g.41973406A>G - PMM1(NM_002676.3):c.705T>C (p.T235=) - CSDC2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.*2487A>G VUS r.(=) p.(=) g.41970835T>C - CSDC2(NM_014460.4):c.398T>C (p.V133A) - CSDC2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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