Variant (rsID / SNP)

rs200080447

rs200080447 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POMGNT2. Location: chromosome 3, position 43,122,355. Clinical significance in the table: Uncertain significance.

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Reference-table entries

POMGNT2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 3:43122355
Cytoband: 3p22.1
HGVS: NM_032806.6(POMGNT2):c.569G>A (p.Arg190Gln)
Allele change: Missense_R190Q

Associated conditions / phenotypes

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

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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