Variant (rsID / SNP)

rs2229857

rs2229857 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ADAR. Location: chromosome 1, position 154,573,967. Clinical significance in the table: Benign.

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Reference-table entries

ADARBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:154573967
Cytoband: 1q21.3
HGVS: NM_001111.5(ADAR):c.1151A>G (p.Lys384Arg)
Allele change: Missense_K384R

Associated conditions / phenotypes

Symmetrical dyschromatosis of extremities|Symmetrical dyschromatosis of extremities|Aicardi-Goutieres syndrome 6|Aicardi-Goutieres syndrome 6

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.