Variant (rsID / SNP)

rs1365776

rs1365776 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SP110. Location: chromosome 2, position 231,072,709. Clinical significance in the table: Benign.

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Reference-table entries

SP110Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:231072709
Cytoband: 2q37.1
HGVS: NM_080424.4(SP110):c.895G>A (p.Gly299Arg)
Allele change: Missense_G299R

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.