NM_014425.5(INVS):c.1670T>G (p.Ile557Ser) AND Infantile nephronophthisis
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 3, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002489656.1
Allele description [Variation Report for NM_014425.5(INVS):c.1670T>G (p.Ile557Ser)]
NM_014425.5(INVS):c.1670T>G (p.Ile557Ser)
Condition(s)
-
Chromosome neighbors for GEO Profiles (Select 94947525) (20)
GEO Profiles
-
Chromosome neighbors for GEO Profiles (Select 127332951) (20)
GEO Profiles
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txid1583592[Organism:noexp] (1)
Identical Protein Groups
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integral membrane protein GPR137C isoform 2 [Homo sapiens]
integral membrane protein GPR137C isoform 2 [Homo sapiens]gi|153792393|ref|NP_001093122.1|Protein
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cytochrome c oxidase subunit I, partial (mitochondrion) [Nycticeius humeralis]
cytochrome c oxidase subunit I, partial (mitochondrion) [Nycticeius humeralis]gi|301344377|gb|ADK73950.1|Protein
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See more...Assertion and evidence details
Last Updated: Feb 28, 2024