Variant (rsID / SNP)
rs200061415
rs200061415 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PLEC. Location: chromosome 8, position 144,995,807. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
PLECBenign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 8:144995807
- Cytoband
- 8q24.3
- HGVS
- NM_201384.3(PLEC):c.8182A>G (p.Ile2728Val)
- Allele change
- Missense_I2728V
Associated conditions / phenotypes
Epidermolysis bullosa simplex, Ogna type|Epidermolysis bullosa simplex 5C, with pyloric atresia|Autosomal recessive limb-girdle muscular dystrophy type 2Q|Epidermolysis bullosa simplex 5B, with muscular dystrophy|Epidermolysis bullosa simplex with nail dystrophy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.