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Variant (rsID / SNP)

rs200863680

POMGNT1TSPAN1

rs200863680 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POMGNT1, TSPAN1. Location: chromosome 1, position 46,659,965. Clinical significance in the table: Uncertain significance.

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Reference-table entries

POMGNT1Uncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Chromosome / position
1:46659965
Cytoband
1p34.1
HGVS
NM_017739.4(POMGNT1):c.860T>G (p.Ile287Ser)
Allele change
Missense_I287S

Associated conditions / phenotypes

Retinitis pigmentosa 76|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3|Autosomal recessive limb-girdle muscular dystrophy type 2O|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Public references

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