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Variant (rsID / SNP)

rs146097254

POMGNT1TSPAN1

rs146097254 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POMGNT1, TSPAN1. Location: chromosome 1, position 46,658,095. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

POMGNT1Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
1:46658095
Cytoband
1p34.1
HGVS
NM_017739.4(POMGNT1):c.1298C>T (p.Thr433Met)
Allele change
Missense_T433M

Associated conditions / phenotypes

Congenital Muscular Dystrophy, alpha-dystroglycan related|Autosomal recessive limb-girdle muscular dystrophy type 2O|Muscle eye brain disease|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.