NM_001378454.1(ALMS1):c.7983A>T (p.Glu2661Asp) AND Cardiovascular phenotype
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- May 8, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002420703.2
Allele description [Variation Report for NM_001378454.1(ALMS1):c.7983A>T (p.Glu2661Asp)]
NM_001378454.1(ALMS1):c.7983A>T (p.Glu2661Asp)
Condition(s)
- Name:
- Cardiovascular phenotype
- Identifiers:
- MedGen: CN230736
-
Homo sapiens glutamate-ammonia ligase (GLUL), RefSeqGene on chromosome 1
Homo sapiens glutamate-ammonia ligase (GLUL), RefSeqGene on chromosome 1gi|742670592|ref|NG_013347.2|Nucleotide
-
S41 family peptidase [Shewanella oncorhynchi]
S41 family peptidase [Shewanella oncorhynchi]gi|2566802745|gnl|PRJNA1005235|RA17 50|gb|WMB73103.1|Protein
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Last Updated: Sep 29, 2024