NM_003322.6(TULP1):c.1349G>A (p.Trp450Ter) AND Leber congenital amaurosis
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jun 23, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001003239.1
Allele description [Variation Report for NM_003322.6(TULP1):c.1349G>A (p.Trp450Ter)]
NM_003322.6(TULP1):c.1349G>A (p.Trp450Ter)
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
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Feb 20, 2024