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Variant (rsID / SNP)

rs149948290

POMGNT2

rs149948290 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POMGNT2. Location: chromosome 3, position 43,122,560. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

POMGNT2Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
3:43122560
Cytoband
3p22.1
HGVS
NM_032806.6(POMGNT2):c.364G>A (p.Val122Met)
Allele change
Missense_V122M

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.