Variant (rsID / SNP)

rs117183989

rs117183989 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLCN7. Location: chromosome 16, position 1,507,737. Clinical significance in the table: Benign.

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Reference-table entries

CLCN7Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 16:1507737
Cytoband: 16p13.3
HGVS: NM_001287.6(CLCN7):c.696C>T (p.Ser232=)
Allele change: Synonymous_S208S

Associated conditions / phenotypes

Osteopetrosis|Increased bone mineral density

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.