NM_001927.4(DES):c.144G>A (p.Ser48=) AND Cardiovascular phenotype
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 15, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000620151.3
Allele description [Variation Report for NM_001927.4(DES):c.144G>A (p.Ser48=)]
NM_001927.4(DES):c.144G>A (p.Ser48=)
Condition(s)
- Name:
- Cardiovascular phenotype
- Identifiers:
- MedGen: CN230736
-
Homo sapiens histidine ammonia-lyase (HAL), transcript variant 3, mRNA
Homo sapiens histidine ammonia-lyase (HAL), transcript variant 3, mRNAgi|1676324810|ref|NM_001258334.2|Nucleotide
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Last Updated: May 1, 2024