NM_001100.4(ACTA1):c.1008G>C (p.Glu336Asp) AND ACTA1-related disorder
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jun 2, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003391608.4
Allele description [Variation Report for NM_001100.4(ACTA1):c.1008G>C (p.Glu336Asp)]
NM_001100.4(ACTA1):c.1008G>C (p.Glu336Asp)
Condition(s)
- Name:
- ACTA1-related disorder
- Synonyms:
- ACTA1-related condition
- Identifiers:
-
ankyrin repeat and SAM domain-containing protein 3 isoform 1 [Homo sapiens]
ankyrin repeat and SAM domain-containing protein 3 isoform 1 [Homo sapiens]gi|42734375|ref|NP_597707.1|Protein
-
KLLA0B05808p [Kluyveromyces lactis]
KLLA0B05808p [Kluyveromyces lactis]gi|49640926|emb|CAH02187.1|Protein
-
AO090012000813 [Aspergillus oryzae RIB40]
AO090012000813 [Aspergillus oryzae RIB40]Gene ID:5988241Gene
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Last Updated: May 19, 2024