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.178+7C>A r.(=) p.(=) - VUS g.15162404G>T g.15259087G>T - - PMP22_000072 - - - - Germline - - - 0 - Andreas Laner
-?/. - c.178+7C>A r.(=) p.(=) - likely benign g.15162404G>T - PMP22(NM_001281456.1):c.178+7C>A - PMP22_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
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