Variant (rsID / SNP)

rs78635798

rs78635798 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RNASEH2C. Location: chromosome 11, position 65,487,856. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

RNASEH2CPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:65487856
Cytoband: 11q13.1
HGVS: NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp)
Allele change: Missense_R69W

Associated conditions / phenotypes

Aicardi-Goutieres syndrome 3|Abnormality of the nervous system|Aicardi Goutieres syndrome

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.