NM_001613.4(ACTA2):c.234C>T (p.Ile78=) AND Aortic aneurysm, familial thoracic 6
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Feb 27, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002558802.3
Allele description [Variation Report for NM_001613.4(ACTA2):c.234C>T (p.Ile78=)]
NM_001613.4(ACTA2):c.234C>T (p.Ile78=)
Condition(s)
-
host cell factor 1 isoform X1 [Theropithecus gelada]
host cell factor 1 isoform X1 [Theropithecus gelada]gi|1411182091|ref|XP_025227509.1|Protein
-
S41 family peptidase [Lacticaseibacillus huelsenbergensis]
S41 family peptidase [Lacticaseibacillus huelsenbergensis]gi|2473693295|gnl|extdb|LHUE1_00245 WFB40681.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024