Variant (rsID / SNP)
rs145236923
rs145236923 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GALNT12. Location: chromosome 9, position 101,594,229. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
GALNT12Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 9:101594229
- Cytoband
- 9q22.33
- HGVS
- NM_024642.5(GALNT12):c.907G>A (p.Asp303Asn)
- Allele change
- Missense_D303N
Associated conditions / phenotypes
Hereditary cancer-predisposing syndrome|Adenomatous polyposis coli, attenuated|Colorectal cancer, susceptibility to, 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
