NM_001371727.1(GABRB2):c.1286G>A (p.Ser429Asn) AND Intellectual disability
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 6, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000799617.7
Allele description [Variation Report for NM_001371727.1(GABRB2):c.1286G>A (p.Ser429Asn)]
NM_001371727.1(GABRB2):c.1286G>A (p.Ser429Asn)
Condition(s)
- Name:
- Intellectual disability
- Synonyms:
- Intellectual functioning disability; intellectual disabilities; Intellectual developmental disorder
- Identifiers:
- MONDO: MONDO:0001071; MeSH: D008607; MedGen: C3714756; Human Phenotype Ontology: HP:0001249
-
Homo sapiens keratin 12 (KRT12), mRNA
Homo sapiens keratin 12 (KRT12), mRNAgi|1551925058|ref|NM_000223.4|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Feb 20, 2024