Variant (rsID / SNP)

rs199845488

rs199845488 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SP110. Location: chromosome 2, position 231,072,727. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

SP110Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:231072727
Cytoband: 2q37.1
HGVS: NM_080424.4(SP110):c.877A>T (p.Lys293Ter)
Allele change: Missense_K293E

Associated conditions / phenotypes

Hepatic veno-occlusive disease-immunodeficiency syndrome

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.