Variant (rsID / SNP)

rs193919335

rs193919335 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POMGNT1, TSPAN1. Location: chromosome 1, position 46,656,145. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

POMGNT1Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:46656145
Cytoband: 1p34.1
HGVS: NM_017739.4(POMGNT1):c.1649G>A (p.Ser550Asn)
Allele change: Missense_S550N

Associated conditions / phenotypes

Muscle eye brain disease|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

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.