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Variant (rsID / SNP)

rs193919336

POMGNT1TSPAN1

rs193919336 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POMGNT1, TSPAN1. Location: chromosome 1, position 46,659,545. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

POMGNT1Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
1:46659545
Cytoband
1p34.1
HGVS
NM_017739.4(POMGNT1):c.932G>A (p.Arg311Gln)
Allele change
Missense_R311Q

Associated conditions / phenotypes

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

Public references

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