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Variant (rsID / SNP)

rs138603088

SAMHD1

rs138603088 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SAMHD1. Location: chromosome 20, position 35,559,186. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SAMHD1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
20:35559186
Cytoband
20q11.23
HGVS
NM_015474.4(SAMHD1):c.602T>A (p.Ile201Asn)
Allele change
Missense_I201N

Associated conditions / phenotypes

Chilblain lupus 2|Aicardi-Goutieres syndrome 5|Aicardi Goutieres syndrome

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.