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: | RNASEH2C |
| Type: | single nucleotide variant |
| Location: |
Chr11: 65488174
- assembly
GRCh37 Chr11: 65720703 - assembly GRCh38 |
Condition |
|
| Disease: | Aicardi Goutieres syndrome 3 |