All variants in the PMP22 gene

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_000304.3 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

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     
+/. - c.236C>G r.(?) p.(Ser79Cys) - pathogenic g.15142871G>C g.15239554G>C PMP22(NM_000304.2):c.236C>G (p.S79C) - PMP22_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. 4 c.236C>G r.(?) p.(Ser79Cys) - pathogenic g.15142871G>C g.15239554G>C - - PMP22_000028 - PubMed: Roa 1993 - - Germline - - - 0 - Johan den Dunnen
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