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Variant (rsID / SNP)

rs115198029

CRTAP

rs115198029 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CRTAP. Location: chromosome 3, position 33,174,163. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CRTAPConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
3:33174163
Cytoband
3p22.3
HGVS
NM_006371.5(CRTAP):c.1039C>T (p.Leu347Phe)
Allele change
Missense_L347F

Associated conditions / phenotypes

Osteogenesis imperfecta type 7|Osteogenesis imperfecta

Public references

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