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.

16 entries on 1 page. Showing entries 1 - 16.
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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     
+/. _1_5_ c.-238_*1140{2} r.? p.? Unknown - pathogenic (dominant) g.(?_15133094)_(15168674_?)dup g.(?_15229777)_(15265357_?)dup c.(?_-1)_(*1_?)dup - PMP22_000101 - PubMed: Antoniadi 2015 - - Germline - - - - - DNA SEQ - 56-gene neuropathy panel CMT2 Pat14 PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. _1_5_ c.-238_*1140{2} r.? p.? Unknown - pathogenic (dominant) g.(?_15133094)_(15168674_?)dup g.(?_15229777)_(15265357_?)dup c.(?_-1)_(*1_?)dup - PMP22_000101 - PubMed: Antoniadi 2015 - - Germline - - - - - DNA SEQ - 56-gene neuropathy panel neuropathy Pat15 PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. _1_5_ c.(?_-238)_(*1140_?)dup r.? p.? Unknown - pathogenic g.(?_15133094)_(15168674_?)dup g.(?_15229777)_(15265357_?)dup - - PMP22_000101 - PubMed: Barp 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - hCK FamPatIII2 PubMed: Barp 2024 3-generation family, 2 affected (2M) M - Italy - - - - - 1 Johan den Dunnen
+/. _1_5_ c.-238_*1140{2} r.= p.= Parent #1 - pathogenic (dominant) g.(?_15133094)_(15168674_?)dup g.(?_15229777)_(15265357_?)dup duplication entire gene - PMP22_000101 - PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline - 1/612 cases - - - DNA SEQ, SEQ-NG, MLPA - targeted multigene panel CMT 28902413-Pat43 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients M - (Germany) - - - - - 1 Johan den Dunnen
+/. _1_5_ c.-238_*1140{2} r.= p.= Parent #1 - pathogenic (dominant) g.(?_15133094)_(15168674_?)dup g.(?_15229777)_(15265357_?)dup duplication entire gene - PMP22_000101 - PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline - 1/612 cases - - - DNA SEQ, SEQ-NG, MLPA - targeted multigene panel CMT 28902413-Pat44 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients F - (Germany) - - - - - 1 Johan den Dunnen
+/. _1_5_ c.-238_*1140{2} r.= p.= Parent #1 - pathogenic (dominant) g.(?_15133094)_(15168674_?)dup g.(?_15229777)_(15265357_?)dup duplication entire gene - PMP22_000101 - PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline - 1/612 cases - - - DNA SEQ, SEQ-NG, MLPA - targeted multigene panel CMT 28902413-Pat45 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients M - (Germany) - - - - - 1 Johan den Dunnen
+/. _1_5_ c.-238_*1140{2} r.= p.= Parent #1 - pathogenic (dominant) g.(?_15133094)_(15168674_?)dup g.(?_15229777)_(15265357_?)dup duplication entire gene - PMP22_000101 - PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline - 1/612 cases - - - DNA SEQ, SEQ-NG, MLPA - targeted multigene panel CMT 28902413-Pat46 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients M - (Germany) - - - - - 1 Johan den Dunnen
+/. _1_5_ c.-238_*1140{2} r.= p.= Parent #1 - pathogenic (dominant) g.(?_15133094)_(15168674_?)dup g.(?_15229777)_(15265357_?)dup duplication entire gene - PMP22_000101 - PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline - 1/612 cases - - - DNA SEQ, SEQ-NG, MLPA - targeted multigene panel CMT 28902413-Pat47 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients M - (Germany) - - - - - 1 Johan den Dunnen
+/. _1_5_ c.-238_*1140{2} r.= p.= Parent #1 - pathogenic (dominant) g.(?_15133094)_(15168674_?)dup g.(?_15229777)_(15265357_?)dup duplication entire gene - PMP22_000101 - PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline - 1/612 cases - - - DNA SEQ, SEQ-NG, MLPA - targeted multigene panel CMT 28902413-Pat48 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients F - (Germany) - - - - - 1 Johan den Dunnen
+/. _1_5_ c.-238_*1140{2} r.= p.= Parent #1 - pathogenic (dominant) g.(?_15133094)_(15168674_?)dup g.(?_15229777)_(15265357_?)dup duplication entire gene - PMP22_000101 - PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline - 1/612 cases - - - DNA SEQ, SEQ-NG, MLPA - targeted multigene panel CMT 28902413-Pat49 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients M - (Germany) - - - - - 1 Johan den Dunnen
+/. _1_5_ c.-238_*1140{2} r.= p.= Parent #1 - pathogenic (dominant) g.(?_15133094)_(15168674_?)dup g.(?_15229777)_(15265357_?)dup duplication entire gene - PMP22_000101 - PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline - 1/612 cases - - - DNA SEQ, SEQ-NG, MLPA - targeted multigene panel CMT 28902413-Pat50 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients F - (Germany) - - - - - 1 Johan den Dunnen
+/. _1_5_ c.-238_*1140{2} r.= p.= Parent #1 - pathogenic (dominant) g.(?_15133094)_(15168674_?)dup g.(?_15229777)_(15265357_?)dup duplication entire gene - PMP22_000101 - PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline - 1/612 cases - - - DNA SEQ, SEQ-NG, MLPA - targeted multigene panel CMT 28902413-Pat51 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients F - (Germany) - - - - - 1 Johan den Dunnen
+/. _1_5_ c.-238_*1140{2} r.= p.= Parent #1 - pathogenic (dominant) g.(?_15133094)_(15168674_?)dup g.(?_15229777)_(15265357_?)dup duplication entire gene - PMP22_000101 - PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline - 1/612 cases - - - DNA SEQ, SEQ-NG, MLPA - targeted multigene panel CMT 28902413-Pat52 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients M - (Germany) - - - - - 1 Johan den Dunnen
+/. _1_5_ c.-238_*1140{2} r.= p.= Parent #1 - pathogenic (dominant) g.(?_15133094)_(15168674_?)dup g.(?_15229777)_(15265357_?)dup duplication entire gene - PMP22_000101 - PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline - 1/612 cases - - - DNA SEQ, SEQ-NG, MLPA - targeted multigene panel CMT 28902413-Pat53 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients F - (Germany) - - - - - 1 Johan den Dunnen
+/. _1_5_ c.-238_*1140{2} r.= p.= Parent #1 - pathogenic (dominant) g.(?_15133094)_(15168674_?)dup g.(?_15229777)_(15265357_?)dup duplication entire gene - PMP22_000101 - PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline - 1/612 cases - - - DNA SEQ, SEQ-NG, MLPA - targeted multigene panel CMT 28902413-Pat54 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients M - (Germany) - - - - - 1 Johan den Dunnen
+/. _1_5_ c.-238_*1140{2} r.? p.? Unknown - pathogenic (dominant) g.(?_15133094)_(15168674_?)dup g.(?_15229777)_(15265357_?)dup duplication ex1-5 - PMP22_000101 - PubMed: Xie 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - candidate gene panel LGMD P1 PubMed: Xie 2019 - M - China - - - - - 1 Johan den Dunnen
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