Variant (rsID / SNP)

rs121909053

rs121909053 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SERPINI1. Location: chromosome 3, position 167,543,053. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

SERPINI1Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:167543053
Cytoband: 3q26.1
HGVS: NM_001122752.2(SERPINI1):c.1175G>A (p.Gly392Glu)
Allele change: Missense_G392E

Associated conditions / phenotypes

Familial encephalopathy with neuroserpin inclusion bodies|Abnormality of the nervous system

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.