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NM_032193.3(RNASEH2C):c.56C>G (p.Ala19Gly) AND Aicardi Goutieres syndrome 3

Significance: Uncertain significance
ClinVar: RCV000706231

Variant: NM_032193.3(RNASEH2C):c.56C>G (p.Ala19Gly)

Type: Variant
Allele: NM_032193.3(RNASEH2C):c.56C>G (p.Ala19Gly) 570828
Gene:
Type: single nucleotide variant
Location: Chr11: 65488174 - assembly GRCh37
Chr11: 65720703 - assembly GRCh38

Condition

Disease: Aicardi Goutieres syndrome 3