NM_001134831.2(AHI1):c.1454A>G (p.Asn485Ser) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 21, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003243167.2
Allele description [Variation Report for NM_001134831.2(AHI1):c.1454A>G (p.Asn485Ser)]
NM_001134831.2(AHI1):c.1454A>G (p.Asn485Ser)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
Assertion and evidence details
Last Updated: May 1, 2024