Variant (rsID / SNP)

rs521678

rs521678 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RNASEH2C, KAT5. Location: chromosome 11, position 65,485,727. Clinical significance in the table: Benign.

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Reference-table entries

RNASEH2CBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 11:65485727
Cytoband: 11q13.1
HGVS: NM_032193.4(RNASEH2C):c.*1527A>C
Allele change: Silent

Associated conditions / phenotypes

Aicardi-Goutieres syndrome 3

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.