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NM_032193.3(RNASEH2C):c.417C>G (p.Gly139=) AND Aicardi Goutieres syndrome 3

Significance: Benign/Likely benign
ClinVar: RCV000557783

Variant: NM_032193.3(RNASEH2C):c.417C>G (p.Gly139=)

Type: Variant
Allele: NM_032193.3(RNASEH2C):c.417C>G (p.Gly139=) 328501
Gene:
Type: single nucleotide variant
Location: Chr11: 65487567 - assembly GRCh37
Chr11: 65720096 - assembly GRCh38
References: dbSNP: 147021687
Illumina Clinical Services Laboratory,Illumina: 614632

Condition

Disease: Aicardi Goutieres syndrome 3