Variant (rsID / SNP)

rs34063250

rs34063250 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SERPINF1. Location: chromosome 17, position 1,675,281. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

SERPINF1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 17:1675281
Cytoband: 17p13.3
HGVS: NM_002615.7(SERPINF1):c.555G>A (p.Gln185=)
Allele change: Synonymous_Q185Q

Associated conditions / phenotypes

Osteogenesis imperfecta type 6

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.