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)
-
W6q14 weight 6 weeks QTL 14 [Mus musculus]
W6q14 weight 6 weeks QTL 14 [Mus musculus]Gene ID:100035599Gene
-
Chain A, A disintegrin and metalloproteinase with thrombospondin motifs 13
Chain A, A disintegrin and metalloproteinase with thrombospondin motifs 13gi|433286601|pdb|3VN4|AProtein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Apr 6, 2024