Variant (rsID / SNP)

rs75146158

rs75146158 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RNASEH2C, KAT5. Location: chromosome 11, position 65,487,556. Clinical significance in the table: Pathogenic.

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Reference-table entries

RNASEH2CPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:65487556
Cytoband: 11q13.1
HGVS: NM_032193.4(RNASEH2C):c.428A>T (p.Lys143Ile)
Allele change: Missense_K143I

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.