Variant (rsID / SNP)

rs7247284

rs7247284 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RNASEH2A. Location: chromosome 19, position 12,921,186. Clinical significance in the table: Benign.

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Reference-table entries

RNASEH2ABenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 19:12921186
Cytoband: 19p13.13
HGVS: NM_006397.3(RNASEH2A):c.605T>C (p.Leu202Ser)
Allele change: Missense_L202S

Associated conditions / phenotypes

Aicardi-Goutieres syndrome 4

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.