NM_004836.7(EIF2AK3):c.2159G>A (p.Arg720Lys) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 5, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002569198.2
Allele description [Variation Report for NM_004836.7(EIF2AK3):c.2159G>A (p.Arg720Lys)]
NM_004836.7(EIF2AK3):c.2159G>A (p.Arg720Lys)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
-
protein kinase C delta type isoform X1 [Rattus norvegicus]
protein kinase C delta type isoform X1 [Rattus norvegicus]gi|2678902048|ref|XP_063131118.1|Protein
-
RecName: Full=4-trimethylaminobutyraldehyde dehydrogenase A; Short=TMABA-DH; Sho...
RecName: Full=4-trimethylaminobutyraldehyde dehydrogenase A; Short=TMABA-DH; Short=TMABADH; AltName: Full=Aldehyde dehydrogenase family 9 member A1-Agi|82209620|sp|Q7ZVB2.1|A9A1A_DANREProtein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024