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.

5 entries on 1 page. Showing entries 1 - 5.
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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     
+/. _1_5_ c.-238_*1140{0} r.0 p.0 - pathogenic (dominant) g.(?_15133094)_(15168674_?)del g.(?_15229777)_(15265357_?)del deletion entire gene - PMP22_000100 - PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline - 1/612 cases - 0 - Johan den Dunnen
+/. _1_5_ c.-238_*1140{0} r.0 p.0 - pathogenic (dominant) g.(?_15133094)_(15168674_?)del g.(?_15229777)_(15265357_?)del deletion entire gene - PMP22_000100 - PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline yes 1/612 cases - 0 - Johan den Dunnen
+/. _1_5_ c.-238_*1140{0} r.0 p.0 - pathogenic (dominant) g.(?_15133094)_(15168674_?)del g.(?_15229777)_(15265357_?)del deletion entire gene - PMP22_000100 - PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline - 1/612 cases - 0 - Johan den Dunnen
+/. _1_5_ c.-238_*1140{0} r.0 p.0 - pathogenic (dominant) g.(?_15133094)_(15168674_?)del g.(?_15229777)_(15265357_?)del c.(?_-1)_(*1_?)del - PMP22_000100 - PubMed: Antoniadi 2015 - - Germline - - - 0 - Johan den Dunnen
+/. _1_5_ c.-238_*1140{0} r.0 p.0 ACMG pathogenic (dominant) g.(?_15133094)_(15168674_?)del g.(?_15229777)_(15265357_?)del - - PMP22_000100 1.5 Mb deletion gene PubMed: Cerino 2020 - - Germline - - - 0 - Mathieu Cerino
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