NM_000382.3(ALDH3A2):c.1279T>C (p.Leu427=) AND not provided
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 25, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002182617.5
Allele description [Variation Report for NM_000382.3(ALDH3A2):c.1279T>C (p.Leu427=)]
NM_000382.3(ALDH3A2):c.1279T>C (p.Leu427=)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
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Spliceosomal helicases DDX41/SACY-1 and PRP22/MOG-5 both contribute to proofread...
Spliceosomal helicases DDX41/SACY-1 and PRP22/MOG-5 both contribute to proofreading against proximal 3’ splice site usageSpliceosomal helicases DDX41/SACY-1 and PRP22/MOG-5 both contribute to proofreading against proximal 3’ splice site usageBioProject
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Chain Q, Transcription initiation factor IIA subunit 1
Chain Q, Transcription initiation factor IIA subunit 1gi|2038648930|pdb|7EGI|QProtein
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Last Updated: Feb 28, 2024