Variant (rsID / SNP)
rs386834012
rs386834012 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POMGNT1, TSPAN1. Location: chromosome 1, position 46,658,110. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
POMGNT1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:46658110
- Cytoband
- 1p34.1
- HGVS
- NM_017739.4(POMGNT1):c.1285-2A>G
- Allele change
- Silent
Associated conditions / phenotypes
Muscle eye brain disease|POMGNT1-Related Disorders|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
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.