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Variant (rsID / SNP)

rs113513807

PLEC

rs113513807 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PLEC. Location: chromosome 8, position 144,990,784. Clinical significance in the table: Benign.

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Reference-table entries

PLECBenign
Clinical significance (as recorded)
Benign
Variant type
single nucleotide variant
Chromosome / position
8:144990784
Cytoband
8q24.3
HGVS
NM_201384.3(PLEC):c.13205C>T (p.Thr4402Met)
Allele change
Missense_T4402M

Associated conditions / phenotypes

Epidermolysis bullosa simplex 5C, with pyloric atresia|Epidermolysis bullosa simplex 5B, with muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2Q|Epidermolysis bullosa simplex, Ogna type|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.