NM_014425.5(INVS):c.2089A>G (p.Lys697Glu) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 7, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002547444.2
Allele description [Variation Report for NM_014425.5(INVS):c.2089A>G (p.Lys697Glu)]
NM_014425.5(INVS):c.2089A>G (p.Lys697Glu)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
-
Protein Links for Gene (Select 3841) (19)
Protein
-
SAMN06173705 (1)
BioSample
-
Model organism or animal sample from Petromyzon marinus
Model organism or animal sample from Petromyzon marinusbiosample
-
unnamed protein product [Homo sapiens]
unnamed protein product [Homo sapiens]gi|194383740|dbj|BAG59228.1|Protein
-
MULTISPECIES: 50S ribosomal protein L30 [Bacteria]
MULTISPECIES: 50S ribosomal protein L30 [Bacteria]gi|446123304|ref|WP_000201159.1|Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: May 1, 2024