Variant (rsID / SNP)
rs7014582
rs7014582 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PLEC. Location: chromosome 8, position 144,990,528. Clinical significance in the table: Benign.
Reference-table entries
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 8:144990528
- Cytoband
- 8q24.3
- HGVS
- NM_201384.3(PLEC):c.13461T>C (p.Ala4487=)
- Allele change
- Synonymous_A4487A
Associated conditions / phenotypes
Epidermolysis bullosa simplex 5C, with pyloric atresia|Autosomal recessive limb-girdle muscular dystrophy type 2Q|Epidermolysis bullosa simplex, Ogna type|Epidermolysis bullosa simplex with nail dystrophy|Epidermolysis bullosa simplex 5B, with muscular dystrophy|Epidermolysis bullosa simplex with nail dystrophy|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
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.