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Variant (rsID / SNP)

rs147871747

POMT2

rs147871747 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POMT2. Location: chromosome 14, position 77,769,186. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

POMT2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
14:77769186
Cytoband
14q24.3
HGVS
NM_013382.7(POMT2):c.648C>T (p.Cys216=)
Allele change
Synonymous_C216C

Associated conditions / phenotypes

Autosomal recessive limb-girdle muscular dystrophy type 2N|Autosomal recessive limb-girdle muscular dystrophy type 2N|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2|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.