All transcript variants in gene PIGM

Information The variants shown are described using the NM_145167.2 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

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.-270C>G - r.(0) p.(0) g.160001799G>C g.160032009G>C - - PIGM_000001 variant in promoter region, not in 100 ethnically matched chromosomes; variant associated with reduced amount of PIGM mRNA (0.01 of normal); CD24 expression on granulocytes severely reduced (all patients); radiolabeled glycolipids from lymphoblastoid B cell lines were extracted to study GPI biosynthesis: impaired incorporation of 3H-D-mannose in GPI-enriched glycolipids; transfection of human PIGM cDNA into affected cell lines promptly restored biosynthesis and surface expression of GPI PubMed: Almeida 2006 - rs587776528 Germline yes - - 0 - Philippe Campeau
?/. - c.950G>A VUS r.(?) p.(Cys317Tyr) g.160000580C>T - PIGM(NM_145167.2):c.950G>A (p.C317Y) - PIGM_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.1150A>G likely benign r.(?) p.(Asn384Asp) g.160000380T>C - PIGM(NM_145167.2):c.1150A>G (p.(Asn384Asp)) - PIGM_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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