Variant (rsID / SNP)

rs2292485

rs2292485 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POMGNT1, TSPAN1. Location: chromosome 1, position 46,658,343. Clinical significance in the table: Benign.

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Reference-table entries

POMGNT1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:46658343
Cytoband: 1p34.1
HGVS: NM_017739.4(POMGNT1):c.1212-81C>T
Allele change: Silent

Associated conditions / phenotypes

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3|Retinitis pigmentosa 76

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.