Variant (rsID / SNP)

rs121434516

rs121434516 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SAMHD1. Location: chromosome 20, position 35,559,163. Clinical significance in the table: Uncertain significance.

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Reference-table entries

SAMHD1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 20:35559163
Cytoband: 20q11.23
HGVS: NM_015474.4(SAMHD1):c.625G>A (p.Gly209Ser)
Allele change: Missense_G209S

Associated conditions / phenotypes

Aicardi-Goutieres syndrome 5

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.