NM_000156.6(GAMT):c.79T>C (p.Tyr27His) AND Intellectual disability
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 1, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001251994.9
Allele description [Variation Report for NM_000156.6(GAMT):c.79T>C (p.Tyr27His)]
NM_000156.6(GAMT):c.79T>C (p.Tyr27His)
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
-
Taxonomy Links for Nucleotide (Select 954184538) (1)
Taxonomy
-
Similar Compounds for PubChem Compound (Select 16213820) (549)
PubChem Compound
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Jun 2, 2024