NM_000083.3(CLCN1):c.870C>G (p.Ile290Met) AND CLCN1-related disorder
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Aug 11, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004528125.2
Allele description [Variation Report for NM_000083.3(CLCN1):c.870C>G (p.Ile290Met)]
NM_000083.3(CLCN1):c.870C>G (p.Ile290Met)
Condition(s)
- Name:
- CLCN1-related disorder
- Synonyms:
- CLCN1-related condition
- Identifiers:
-
response regulator 17 [Arabidopsis thaliana]
response regulator 17 [Arabidopsis thaliana]gi|1063717143|ref|NP_001326774.1|Protein
-
pseudo-response regulator 9 [Arabidopsis thaliana]
pseudo-response regulator 9 [Arabidopsis thaliana]gi|1063707029|ref|NP_001325093.1|Protein
-
response regulator 3 [Arabidopsis thaliana]
response regulator 3 [Arabidopsis thaliana]gi|15227325|ref|NP_181663.1|Protein
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See more...Assertion and evidence details
Last Updated: Aug 11, 2024