Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs113418909

SERPINA6

rs113418909 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SERPINA6. Location: chromosome 14, position 94,780,642. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

SERPINA6Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
14:94780642
Cytoband
14q32.13
HGVS
NM_001756.4(SERPINA6):c.344T>A (p.Leu115His)
Allele change
Missense_L115H

Associated conditions / phenotypes

Corticosteroid-binding globulin deficiency

Public references

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