NM_006009.4(TUBA1A):c.848A>G (p.His283Arg) AND Seizure
- Germline classification:
- Likely pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002275469.1
Allele description [Variation Report for NM_006009.4(TUBA1A):c.848A>G (p.His283Arg)]
NM_006009.4(TUBA1A):c.848A>G (p.His283Arg)
Condition(s)
- Name:
- Seizure
- Synonyms:
- Seizures
- Identifiers:
- MedGen: C0036572; Human Phenotype Ontology: HP:0001250
-
BioAssay, by Gene target for Gene (Select 11022) (13)
PubChem BioAssay
-
tudor and KH domain-containing protein isoform X1 [Homo sapiens]
tudor and KH domain-containing protein isoform X1 [Homo sapiens]gi|2462502433|ref|XP_054189937.1|Protein
-
PREDICTED: Homo sapiens tudor and KH domain containing (TDRKH), transcript varia...
PREDICTED: Homo sapiens tudor and KH domain containing (TDRKH), transcript variant X7, mRNAgi|2462502442|ref|XM_054333967.1|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Dec 24, 2023