Variant (rsID / SNP)

rs149809222

rs149809222 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GALNT3. Location: chromosome 2, position 166,627,079. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

GALNT3Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:166627079
Cytoband: 2q24.3
HGVS: NM_004482.4(GALNT3):c.132A>G (p.Gln44=)
Allele change: Synonymous_Q44Q

Associated conditions / phenotypes

Tumoral calcinosis, hyperphosphatemic, familial, 1

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.