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Variant (rsID / SNP)

rs398124245

POMT1

rs398124245 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POMT1. Location: chromosome 9, position 134,398,413. Clinical significance in the table: Pathogenic.

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Reference-table entries

POMT1Pathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
Duplication
Chromosome / position
9:134398413
Cytoband
9q34.13
HGVS
NM_001077365.2(POMT1):c.2101dup (p.Asp701fs)

Associated conditions / phenotypes

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1|Autosomal recessive limb-girdle muscular dystrophy type 2K|Walker-Warburg congenital muscular dystrophy|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1|POMT1-Related Disorders|Ventriculomegaly|Abnormal brainstem morphology

Public references

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