NM_005859.5(PURA):c.436G>A (p.Glu146Lys) AND PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 4, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001909321.5
Allele description [Variation Report for NM_005859.5(PURA):c.436G>A (p.Glu146Lys)]
NM_005859.5(PURA):c.436G>A (p.Glu146Lys)
Condition(s)
-
major facilitator superfamily transporter [Colletotrichum graminicola M1.001]
major facilitator superfamily transporter [Colletotrichum graminicola M1.001]gi|310789585|gb|EFQ25118.1||gnl|WGS |GLRG_00262T0Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Feb 28, 2024