Variant (rsID / SNP)

rs201267683

rs201267683 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CRTAP. Location: chromosome 3, position 33,161,947. Clinical significance in the table: Uncertain significance.

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Reference-table entries

CRTAPUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 3:33161947
Cytoband: 3p22.3
HGVS: NM_006371.5(CRTAP):c.583G>A (p.Glu195Lys)
Allele change: Missense_E195K

Associated conditions / phenotypes

Osteogenesis imperfecta type 7|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.