NM_017780.4(CHD7):c.8197G>A (p.Ala2733Thr) AND CHD7-related disorder
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 13, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003401870.4
Allele description [Variation Report for NM_017780.4(CHD7):c.8197G>A (p.Ala2733Thr)]
NM_017780.4(CHD7):c.8197G>A (p.Ala2733Thr)
Condition(s)
- Name:
- CHD7-related disorder
- Synonyms:
- CHD7-related condition
- Identifiers:
-
interleukin-1 receptor-like 1 isoform 3 [Homo sapiens]
interleukin-1 receptor-like 1 isoform 3 [Homo sapiens]gi|538920367|ref|NP_001269337.1|Protein
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Last Updated: Aug 25, 2024