Annotation Detail
Information
- Associated Genes
- PLEC
- Associated Variants
-
PLEC p.Arg3139Ter (p.R3139*)
(
ENST00000322810.8,
ENST00000345136.8,
ENST00000354589.7,
ENST00000354958.6,
ENST00000356346.7,
ENST00000357649.6,
ENST00000527096.5,
ENST00000527303.2,
ENST00000398774.6,
ENST00000436759.6,
ENST00000528025.6,
ENST00000685198.1,
ENST00000687971.1,
ENST00000693060.1 )
PLEC p.Arg3139Ter (p.R3139*) ( ENST00000322810.8, ENST00000345136.8, ENST00000354589.7, ENST00000354958.6, ENST00000356346.7, ENST00000357649.6, ENST00000398774.6, ENST00000436759.6, ENST00000527096.5, ENST00000687971.1, ENST00000693060.1, ENST00000527303.2, ENST00000528025.6, ENST00000685198.1 ) - Associated Disease
- Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex 5C, with pyloric atresia autosomal recessive limb-girdle muscular dystrophy type 2Q Epidermolysis bullosa simplex with nail dystrophy
- Source Database
- ClinVar
- Description
- NM_201384.3(PLEC):c.9004C>T (p.Arg3002Ter) AND multiple conditions
- Observed Origin Sample
- germline
- ClinVar Allele ID
- 23305
- ClinVar RefSeq Alternation Syntax
- NM_201378.4:c.8962C>T
- ClinVar RefSeq Alternation Syntax
- NM_201379.3:c.8938C>T
- ClinVar RefSeq Alternation Syntax
- NM_000445.5:c.9085C>T
- ClinVar RefSeq Alternation Syntax
- NM_201383.3:c.9016C>T
- ClinVar RefSeq Alternation Syntax
- NM_201384.3:c.9004C>T
- ClinVar RefSeq Alternation Syntax
- NM_201381.3:c.8908C>T
- ClinVar RefSeq Alternation Syntax
- NM_201382.4:c.9004C>T
- ClinVar RefSeq Alternation Syntax
- NM_201380.4:c.9415C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2020-11-03
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001851744
- ClinVar Disease
- Epidermolysis bullosa simplex 5B, with muscular dystrophy
- ClinVar Disease
- Epidermolysis bullosa simplex with nail dystrophy
- ClinVar Disease
- Autosomal recessive limb-girdle muscular dystrophy type 2Q
- ClinVar Disease
- Epidermolysis bullosa simplex, Ogna type
- ClinVar Disease
- Epidermolysis bullosa simplex 5C, with pyloric atresia
Drugs