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: | RNASEH2C |
| 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 |