Variant (rsID / SNP)

rs104893959

rs104893959 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GCM2. Location: chromosome 6, position 10,877,576. Clinical significance in the table: Pathogenic.

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Reference-table entries

GCM2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 6:10877576
Cytoband: 6p24.2
HGVS: NM_004752.4(GCM2):c.140G>T (p.Arg47Leu)
Allele change: Missense_R47L

Associated conditions / phenotypes

Hypoparathyroidism, familial isolated, 2

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.