NM_000085.5(CLCNKB):c.641C>G (p.Ala214Gly) AND Bartter disease type 4B
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jul 22, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001578909.2
Allele description [Variation Report for NM_000085.5(CLCNKB):c.641C>G (p.Ala214Gly)]
NM_000085.5(CLCNKB):c.641C>G (p.Ala214Gly)
Condition(s)
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Chain b, 40S RIBOSOMAL PROTEIN S27
Chain b, 40S RIBOSOMAL PROTEIN S27gi|1938922411|pdb|5FLX|bProtein
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C1844752 (0)
MedGen
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PHDs-seq: A Large-scale Phenotypic Screening Method for Drug Discovery through P...
PHDs-seq: A Large-scale Phenotypic Screening Method for Drug Discovery through Parallel Multi-readout Quantification [Targeted RNA-seq: KF-b2_0118]PHDs-seq: A Large-scale Phenotypic Screening Method for Drug Discovery through Parallel Multi-readout Quantification [Targeted RNA-seq: KF-b2_0118]BioProject
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603607080F1 CSEQCHN55 Gallus gallus cDNA clone ChEST590p19 5', mRNA sequence
603607080F1 CSEQCHN55 Gallus gallus cDNA clone ChEST590p19 5', mRNA sequencegi|25741901|gnl|dbEST|13612884|gb|B 45.1|Nucleotide
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PREDICTED: Homo sapiens RB1 inducible coiled-coil 1 (RB1CC1), transcript variant...
PREDICTED: Homo sapiens RB1 inducible coiled-coil 1 (RB1CC1), transcript variant X16, mRNAgi|2217373993|ref|XM_011517649.4|Nucleotide
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Last Updated: Sep 29, 2024