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Variant (rsID / SNP)

rs189274856

POMGNT1TSPAN1

rs189274856 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POMGNT1, TSPAN1. Location: chromosome 1, position 46,661,603. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

POMGNT1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:46661603
Cytoband
1p34.1
HGVS
NM_017739.4(POMGNT1):c.421-7C>A
Allele change
Silent

Associated conditions / phenotypes

Autosomal recessive limb-girdle muscular dystrophy type 2O|Congenital Muscular Dystrophy, alpha-dystroglycan related|Autosomal recessive limb-girdle muscular dystrophy type 2O|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3|Muscle eye brain disease

Public references

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