Variant (rsID / SNP)

rs1130335

rs1130335 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALPP. Location: chromosome 2, position 233,243,586. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ALPPBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:233243586
Cytoband: 2q37.1
HGVS: NM_001632.3(ALPP):c.74C= (p.Pro25=)
Allele change: Missense_P25L

Associated conditions / phenotypes

ALKALINE PHOSPHATASE, PLACENTAL, ALLELE-1 POLYMORPHISM

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.