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)     

RNA change     

Protein     

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     

Owner     
?/. 1 - c.694G>A r.(?) p.(Asp232Asn) - VUS g.41973417C>T g.41577413C>T PMM1(NM_002676.3):c.694G>A (p.D232N) - CSDC2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.705T>C r.(?) p.(Thr235=) - likely benign g.41973406A>G g.41577402A>G PMM1(NM_002676.3):c.705T>C (p.T235=) - CSDC2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.*2487A>G r.(=) p.(=) - VUS g.41970835T>C g.41574831T>C CSDC2(NM_014460.4):c.398T>C (p.V133A) - CSDC2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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