Variant (rsID / SNP)

rs147175064

rs147175064 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POMGNT2. Location: chromosome 3, position 43,121,540. 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: 3:43121540
Cytoband: 3p22.1
HGVS: NM_032806.6(POMGNT2):c.1384C>T (p.Arg462Trp)
Allele change: Missense_R462W

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.