Variant (rsID / SNP)

rs604033

rs604033 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POMGNT2. Location: chromosome 3, position 43,121,559. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

POMGNT2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 3:43121559
Cytoband: 3p22.1
HGVS: NM_032806.6(POMGNT2):c.1365G>A (p.Pro455=)
Allele change: Synonymous_P455P

Associated conditions / phenotypes

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8|Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 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.