Variant (rsID / SNP)

rs4076086

rs4076086 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CRTAP. Location: chromosome 3, position 33,161,898. Clinical significance in the table: Benign.

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Reference-table entries

CRTAPBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 3:33161898
Cytoband: 3p22.3
HGVS: NM_006371.5(CRTAP):c.534C>T (p.Asp178=)
Allele change: Synonymous_D178D

Associated conditions / phenotypes

Osteogenesis imperfecta type 7

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.