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Variant (rsID / SNP)

rs190285831

POMT2

rs190285831 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POMT2. Location: chromosome 14, position 77,755,120. Clinical significance in the table: Uncertain significance.

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Reference-table entries

POMT2Uncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Chromosome / position
14:77755120
Cytoband
14q24.3
HGVS
NM_013382.7(POMT2):c.1238G>C (p.Arg413Pro)
Allele change
Missense_R413P

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|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2

Public references

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