Variant (rsID / SNP)

rs150962030

rs150962030 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AGMO. Location: chromosome 7, position 15,433,761. Clinical significance in the table: Uncertain significance.

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Reference-table entries

AGMOUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 7:15433761
Cytoband: 7p21.2
HGVS: NM_001004320.2(AGMO):c.653C>T (p.Pro218Leu)
Allele change: Missense_P218L

Associated conditions / phenotypes

See cases

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.