Variant (rsID / SNP)

rs150363383

rs150363383 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RNASEH2B. Location: chromosome 13, position 51,528,086. Clinical significance in the table: Uncertain significance.

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Reference-table entries

RNASEH2BUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 13:51528086
Cytoband: 13q14.3
HGVS: NM_024570.4(RNASEH2B):c.787A>G (p.Thr263Ala)
Allele change: Missense_T263A

Associated conditions / phenotypes

Aicardi-Goutieres syndrome 2

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.