NM_001394062.1(MACF1):c.1450G>A (p.Val484Met) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 5, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003272560.2
Allele description [Variation Report for NM_001394062.1(MACF1):c.1450G>A (p.Val484Met)]
NM_001394062.1(MACF1):c.1450G>A (p.Val484Met)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
-
PetD, partial (chloroplast) [Chiropetalum schiedeanum]
PetD, partial (chloroplast) [Chiropetalum schiedeanum]gi|2452563345|gb|WEG22365.1|Protein
-
uncharacterized conserved protein [Vibrio vulnificus YJ016]
uncharacterized conserved protein [Vibrio vulnificus YJ016]gi|37198517|dbj|BAC94352.1|Protein
-
Croton macrourus (0)
Identical Protein Groups
-
Croton chypreae (0)
Conserved Domains
-
ribulose 1,5-bisphosphate carboxylase/oxygenase large subunit, partial (chloropl...
ribulose 1,5-bisphosphate carboxylase/oxygenase large subunit, partial (chloroplast) [Parablechnum schiedeanum]gi|1356686766|gb|AVL28613.1|Protein
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See more...Assertion and evidence details
Last Updated: May 1, 2024