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Variant (rsID / SNP)

rs200198778

POMT2

rs200198778 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POMT2. Location: chromosome 14, position 77,745,107. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

POMT2Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
14:77745107
Cytoband
14q24.3
HGVS
NM_013382.7(POMT2):c.1997A>G (p.Tyr666Cys)
Allele change
Missense_Y666C

Associated conditions / phenotypes

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2|Muscular dystrophy|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|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1|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.