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Variant (rsID / SNP)

rs387907576

CLCN7

rs387907576 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLCN7. Location: chromosome 16, position 1,511,461. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

CLCN7Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
16:1511461
Cytoband
16p13.3
HGVS
NM_001287.6(CLCN7):c.296A>G (p.Tyr99Cys)
Allele change
Missense_Y75C

Associated conditions / phenotypes

Autosomal dominant osteopetrosis 2|Autosomal recessive osteopetrosis 4

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.