NM_001384732.1(CPLANE1):c.8292G>C (p.Gln2764His) AND not provided
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 15, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002044162.3
Allele description [Variation Report for NM_001384732.1(CPLANE1):c.8292G>C (p.Gln2764His)]
NM_001384732.1(CPLANE1):c.8292G>C (p.Gln2764His)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
Homo sapiens dystroglycan 1 (DAG1), transcript variant 13, mRNA
Homo sapiens dystroglycan 1 (DAG1), transcript variant 13, mRNAgi|2198916650|ref|NM_001177644.3|Nucleotide
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BioProject Links for Protein (Select 808055284) (1)
BioProject
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See more...Assertion and evidence details
Last Updated: Mar 5, 2024