NM_002230.4(JUP):c.88G>A (p.Ala30Thr) AND Cardiovascular phenotype
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 26, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004031374.1
Allele description [Variation Report for NM_002230.4(JUP):c.88G>A (p.Ala30Thr)]
NM_002230.4(JUP):c.88G>A (p.Ala30Thr)
Condition(s)
- Name:
- Cardiovascular phenotype
- Identifiers:
- MedGen: CN230736
-
Homo sapiens EvC ciliary complex subunit 1 (EVC), RefSeqGene on chromosome 4
Homo sapiens EvC ciliary complex subunit 1 (EVC), RefSeqGene on chromosome 4gi|2310183047|ref|NG_008843.2|Nucleotide
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Last Updated: Sep 29, 2024