NM_031885.5(BBS2):c.358G>A (p.Ala120Thr) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 4, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002475884.1
Allele description [Variation Report for NM_031885.5(BBS2):c.358G>A (p.Ala120Thr)]
NM_031885.5(BBS2):c.358G>A (p.Ala120Thr)
Condition(s)
-
SRX4236158 (1)
SRA
-
Chain AAA, Eukaryotic translation initiation factor 2-alpha kinase 3,Eukaryotic ...
Chain AAA, Eukaryotic translation initiation factor 2-alpha kinase 3,Eukaryotic translation initiation factor 2-alpha kinase 3gi|2043689264|pdb|7MF0|AAAProtein
-
Rattus norvegicus mouse zinc finger protein 14-like, mRNA (cDNA clone IMAGE:7131...
Rattus norvegicus mouse zinc finger protein 14-like, mRNA (cDNA clone IMAGE:7131296), complete cdsgi|118764096|gb|BC128772.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 16, 2024