Variant (rsID / SNP)

rs34565987

rs34565987 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GALNT12. Location: chromosome 9, position 101,602,372. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

GALNT12Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 9:101602372
Cytoband: 9q22.33
HGVS: NM_024642.5(GALNT12):c.1301C>T (p.Pro434Leu)
Allele change: Missense_P434L

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome

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.