GENETIC ENCYCLOPEDIA
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NM_032193.3(RNASEH2C):c.260A>G (p.Glu87Gly) AND Aicardi Goutieres syndrome 3

Significance: Uncertain significance
ClinVar: RCV000704690

Variant: NM_032193.3(RNASEH2C):c.260A>G (p.Glu87Gly)

Type: Variant
Allele: NM_032193.3(RNASEH2C):c.260A>G (p.Glu87Gly) 566066
Gene:
Type: single nucleotide variant
Location: Chr11: 65487801 - assembly GRCh37
Chr11: 65720330 - assembly GRCh38

Condition

Disease: Aicardi Goutieres syndrome 3