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Variant (rsID / SNP)

rs140389725

POMGNT2

rs140389725 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POMGNT2. Location: chromosome 3, position 43,122,436. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

POMGNT2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
3:43122436
Cytoband
3p22.1
HGVS
NM_032806.6(POMGNT2):c.488A>G (p.Asn163Ser)
Allele change
Missense_N163S

Associated conditions / phenotypes

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8

Public references

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