NM_001009944.3(PKD1):c.2183A>G (p.His728Arg) AND PKD1-related disorder
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 19, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003953638.2
Allele description [Variation Report for NM_001009944.3(PKD1):c.2183A>G (p.His728Arg)]
NM_001009944.3(PKD1):c.2183A>G (p.His728Arg)
Condition(s)
- Name:
- PKD1-related disorder
- Synonyms:
- PKD1-related condition
- Identifiers:
-
protein MAL2 [Homo sapiens]
protein MAL2 [Homo sapiens]gi|16418397|ref|NP_443118.1|Protein
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Last Updated: Oct 13, 2024