Variant (rsID / SNP)

rs584961

rs584961 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SERPINH1. Location: chromosome 11, position 75,277,628. Clinical significance in the table: Benign.

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Reference-table entries

SERPINH1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 11:75277628
Cytoband: 11q13.5
HGVS: NM_001235.5(SERPINH1):c.234A>G (p.Leu78=)
Allele change: Synonymous_L78L

Associated conditions / phenotypes

Osteogenesis imperfecta type 10

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.