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Variant (rsID / SNP)

rs782728053

PLEC

rs782728053 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PLEC. Location: chromosome 8, position 144,993,576. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PLECConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
8:144993576
Cytoband
8q24.3
HGVS
NM_201384.3(PLEC):c.10413G>A (p.Thr3471=)
Allele change
Synonymous_T3471T

Associated conditions / phenotypes

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

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.