Full data view for gene PMP22

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     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. 2 c.2T>C r.(?) p.0? Unknown - VUS g.15164043A>G g.15260726A>G Met1Thr - PMP22_000103 - - - - Germline - - - 0 - DNA SEQ - - CMT 03239 - - F - Croatia (Hrvatska) - - 0 - - 1 Ana Merkler
?/. 2 c.2T>C r.(?) p.0? Unknown - VUS g.15164043A>G g.15260726A>G Met1Thr - PMP22_000103 - - - - Germline - - - 0 - DNA SEQ - - CMT 03239 - - M - Croatia (Hrvatska) - - 0 - - 1 Ana Merkler
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