NM_013275.6(ANKRD11):c.7799G>A (p.Arg2600His) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 24, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002317494.9
Allele description [Variation Report for NM_013275.6(ANKRD11):c.7799G>A (p.Arg2600His)]
NM_013275.6(ANKRD11):c.7799G>A (p.Arg2600His)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
-
Autism spectrum disorder - epilepsy - arthrogryposis syndrome
Autism spectrum disorder - epilepsy - arthrogryposis syndromeMedGen
-
C3809910[conceptid] (1)
MedGen
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Last Updated: Sep 29, 2024