Variant (rsID / SNP)

rs149485401

rs149485401 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SP110. Location: chromosome 2, position 231,042,873. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SP110Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:231042873
Cytoband: 2q37.1
HGVS: NM_080424.4(SP110):c.1447G>A (p.Gly483Arg)
Allele change: Missense_G483R

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.