Variant (rsID / SNP)

rs75184679

rs75184679 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RNASEH2B. Location: chromosome 13, position 51,519,581. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

RNASEH2BPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 13:51519581
Cytoband: 13q14.3
HGVS: NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)
Allele change: Missense_A177T

Associated conditions / phenotypes

Aicardi-Goutieres syndrome 2|Aicardi Goutieres syndrome|Cerebral palsy|Abnormality of the nervous system

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.