Variant (rsID / SNP)

rs116856142

rs116856142 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SP7. Location: chromosome 12, position 53,722,233. Clinical significance in the table: Benign.

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Reference-table entries

SP7Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 12:53722233
Cytoband: 12q13.13
HGVS: NM_001173467.3(SP7):c.993C>T (p.Cys331=)
Allele change: Synonymous_C331C

Associated conditions / phenotypes

Osteogenesis imperfecta

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.