Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs147268052

POMT2

rs147268052 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POMT2. Location: chromosome 14, position 77,755,108. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

POMT2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
14:77755108
Cytoband
14q24.3
HGVS
NM_013382.7(POMT2):c.1250A>G (p.Lys417Arg)
Allele change
Missense_K417R

Associated conditions / phenotypes

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2|Autosomal recessive limb-girdle muscular dystrophy type 2N|Autosomal recessive limb-girdle muscular dystrophy type 2N

Public references

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