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Variant (rsID / SNP)

rs368817785

POMT2

rs368817785 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POMT2. Location: chromosome 14, position 77,751,891. Clinical significance in the table: Pathogenic.

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Reference-table entries

POMT2Pathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
14:77751891
Cytoband
14q24.3
HGVS
NM_013382.7(POMT2):c.1417C>T (p.Arg473Ter)
Allele change
Nonsense_R473X

Associated conditions / phenotypes

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2|Autosomal recessive limb-girdle muscular dystrophy type 2N

Public references

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