Variant (rsID / SNP)

rs267606966

rs267606966 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POMT2. Location: chromosome 14, position 77,767,512. Clinical significance in the table: Pathogenic.

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Reference-table entries

POMT2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 14:77767512
Cytoband: 14q24.3
HGVS: NM_013382.7(POMT2):c.737G>A (p.Gly246Asp)
Allele change: Missense_G246D

Associated conditions / phenotypes

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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