Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs386834034

POMGNT1TSPAN1

rs386834034 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POMGNT1, TSPAN1. Location: chromosome 1, position 46,660,525. Clinical significance in the table: Pathogenic.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

POMGNT1Pathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
1:46660525
Cytoband
1p34.1
HGVS
NM_017739.4(POMGNT1):c.643C>T (p.Arg215Ter)
Allele change
Nonsense_R215X

Associated conditions / phenotypes

Muscle eye brain disease|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3|Autosomal recessive limb-girdle muscular dystrophy type 2O|Retinitis pigmentosa 76|Autosomal recessive limb-girdle muscular dystrophy type 2O|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3|Muscular dystrophy-dystroglycanopathy

Public references

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