RGD:8597585 Rat Genome Database

RGD ID:

8597585

RS ID:

rs121909133

ClinVar ID:

CV22632

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	1	16,378,219
GRCh38	1	16,051,724

JBrowse:

Model

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Age of Onset	Prevalence	Trait Synonyms
NG_013079.1:g.12973C>T NC_000001.11:g.16051724C>T NC_000001.10:g.16378219C>T NP_000076.2:p.Arg438Cys More...	09/27/2021	missense\|missense variant	pathogenic\|uncertain significance	adolescent\|variable	1-9 / 1 000 000	Bartter syndrome classic; Bartter syndrome type 3; none provided

Disease Annotations Click to see Annotation Detail View

Variant Details

Variant Transcripts

Gene Symbol:	CLCNKB
Accession:	NM_001165945
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	269

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPCPPLLSVPVRAAGEQDRWVREEVTWGGGPTVTGGWGWRAHLRSVSPPGVLFSIEVMSSHFSVWDYWRGFFAATCGAFM FRLLAVFNSEQETITSLYKTSFRVDVPFDLPEIFFFVALGGLCGILGSAYLFCQRIFFGFIRNNRFSSKLLATSKPVYSA LATLVLASITYPPSAGRFLASRLSMKQHLDSLFDNHSWALMTQNSSPPWPEELDPQHLWWEWYHPRFTIFGTLAFFLVMK FWMLILATTIPMPAGYFMPIFVYGAAIGCLFGETLSFIFPEGIVAGGITNPIMPGGYALAGAAAFSGAVTHTISTALLAF EVTGQIVHALPVLMAVLAANAIAQSCQPSFYDGTVIVKKLPYLPRILGRNIGSHRVRVEHFMNHSITTLAKDMPLEEVVK VVTSTDVAKYPLVESTESQILVGIVRRAQLVQALKAEPPSWAPGHQCLQDILAAGCPTEPVTLKLSPETSLHEAHNLFEL LNLHSLFVTSRGRAVGCVSWVEMKKAISNLTNPPAPK*

Gene Symbol:	CLCNKB
Accession:	NM_000085
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	438

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEEFVGLREGSSGNPVTLQELWGPCPRIRRGIRGGLEWLKQKLFRLGEDWYFLMTLGVLMALVSCAMDLAVESVVRAHQW LYREIGDSHLLRYLSWTVYPVALVSFSSGFSQSITPSSGGSGIPEVKTMLAGVVLEDYLDIKNFGAKVVGLSCTLACGST LFLGKVGPFVHLSVMMAAYLGRVRTTTIGEPENKSKQNEMLVAAAAVGVATVFAAPFSGVLFSIEVMSSHFSVWDYWRGF FAATCGAFMFRLLAVFNSEQETITSLYKTSFRVDVPFDLPEIFFFVALGGLCGILGSAYLFCQRIFFGFIRNNRFSSKLL ATSKPVYSALATLVLASITYPPSAGRFLASRLSMKQHLDSLFDNHSWALMTQNSSPPWPEELDPQHLWWEWYHPRFTIFG TLAFFLVMKFWMLILATTIPMPAGYFMPIFVYGAAIGCLFGETLSFIFPEGIVAGGITNPIMPGGYALAGAAAFSGAVTH TISTALLAFEVTGQIVHALPVLMAVLAANAIAQSCQPSFYDGTVIVKKLPYLPRILGRNIGSHRVRVEHFMNHSITTLAK DMPLEEVVKVVTSTDVAKYPLVESTESQILVGIVRRAQLVQALKAEPPSWAPGHQQCLQDILAAGCPTEPVTLKLSPETS LHEAHNLFELLNLHSLFVTSRGRAVGCVSWVEMKKAISNLTNPPAPK*

Variant Samples

Additional References at PubMed

PMID:9326936	PMID:10831588	PMID:10906158	PMID:11734858	PMID:21631963	PMID:23703872	PMID:23991001	PMID:25741868	PMID:25810436	PMID:26467025	PMID:28381550	PMID:28492532
PMID:31115572	PMID:32857947

Additional Information

External Database Links

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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