NM_007055.4(POLR3A):c.4003G>A (p.Gly1335Arg) AND Neonatal pseudo-hydrocephalic progeroid syndrome
- Germline classification:
- Likely pathogenic (2 submissions)
- 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:
- RCV000754392.3
Allele description [Variation Report for NM_007055.4(POLR3A):c.4003G>A (p.Gly1335Arg)]
NM_007055.4(POLR3A):c.4003G>A (p.Gly1335Arg)
Condition(s)
Assertion and evidence details
Last Updated: Apr 6, 2024