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Variant (rsID / SNP)

rs200465419

POMT1

rs200465419 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POMT1. Location: chromosome 9, position 134,381,507. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

POMT1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
9:134381507
Cytoband
9q34.13
HGVS
NM_001077365.2(POMT1):c.129C>T (p.Asp43=)
Allele change
Silent

Associated conditions / phenotypes

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1|Autosomal recessive limb-girdle muscular dystrophy type 2K|Walker-Warburg congenital muscular dystrophy

Public references

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