Variant (rsID / SNP)
rs76634951
rs76634951 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RNASEH2A. Location: chromosome 19, position 12,924,157. Clinical significance in the table: Benign.
Reference-table entries
RNASEH2ABenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 19:12924157
- Cytoband
- 19p13.13
- HGVS
- NM_006397.3(RNASEH2A):c.777C>T (p.Ser259=)
- Allele change
- Synonymous_S259S
Associated conditions / phenotypes
Aicardi-Goutieres syndrome 4
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.