Variant (rsID / SNP)

rs142287570

rs142287570 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GCM2. Location: chromosome 6, position 10,874,568. Clinical significance in the table: Uncertain significance.

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Reference-table entries

GCM2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 6:10874568
Cytoband: 6p24.2
HGVS: NM_004752.4(GCM2):c.1181A>C (p.Tyr394Ser)
Allele change: Missense_Y394S

Associated conditions / phenotypes

Familial hypoparathyroidism|Hyperparathyroidism 4

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.