NM_007055.4(POLR3A):c.3392A>G (p.Lys1131Arg) AND Neonatal pseudo-hydrocephalic progeroid syndrome
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- May 1, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000754394.1
Allele description [Variation Report for NM_007055.4(POLR3A):c.3392A>G (p.Lys1131Arg)]
NM_007055.4(POLR3A):c.3392A>G (p.Lys1131Arg)
Condition(s)
Assertion and evidence details
Last Updated: Mar 30, 2024