RGD:150536485 Rat Genome Database

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Variant: RGD:150536485 -  Homo sapiens

RGD ID: 150536485
RS ID: rs202064075
ClinVar ID: CV1312410
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLCNKB  LOC106501713  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 16,374,847
GRCh38 1 16,048,352
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_042865.1:g.3860G>A
NG_013079.1:g.9601G>A
NC_000001.11:g.16048352G>A
NC_000001.10:g.16374847G>A
More... 		04/20/2022 missense variant pathogenic Bartter disease type 4B; Bartter syndrome classic; Bartter syndrome type 3; Bartter syndrome, type 4b; Bartter syndrome, type 4b, digenic; BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CLCNKB
Accession:NM_000085
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 170
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEFVGLREGSSGNPVTLQELWGPCPRIRRGIRGGLEWLKQKLFRLGEDWYFLMTLGVLMALVSCAMDLAVESVVRAHQW
LYREIGDSHLLRYLSWTVYPVALVSFSSGFSQSITPSSGGSGIPEVKTMLAGVVLEDYLDIKNFGAKVVGLSCTLACGST
LFLGKVGPFMHLSVMMAAYLGRVRTTTIGEPENKSKQNEMLVAAAAVGVATVFAAPFSGVLFSIEVMSSHFSVWDYWRGF
FAATCGAFMFRLLAVFNSEQETITSLYKTSFRVDVPFDLPEIFFFVALGGLCGILGSAYLFCQRIFFGFIRNNRFSSKLL
ATSKPVYSALATLVLASITYPPSAGRFLASRLSMKQHLDSLFDNHSWALMTQNSSPPWPEELDPQHLWWEWYHPRFTIFG
TLAFFLVMKFWMLILATTIPMPAGYFMPIFVYGAAIGRLFGETLSFIFPEGIVAGGITNPIMPGGYALAGAAAFSGAVTH
TISTALLAFEVTGQIVHALPVLMAVLAANAIAQSCQPSFYDGTVIVKKLPYLPRILGRNIGSHRVRVEHFMNHSITTLAK
DMPLEEVVKVVTSTDVAKYPLVESTESQILVGIVRRAQLVQALKAEPPSWAPGHQQCLQDILAAGCPTEPVTLKLSPETS
LHEAHNLFELLNLHSLFVTSRGRAVGCVSWVEMKKAISNLTNPPAPK*

Gene Symbol:CLCNKB
Accession:NM_001165945
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:21415153   PMID:24058621   PMID:24271511   PMID:24830959   PMID:25741868   PMID:28381550   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001780514 CLINVAR
  RCV002478007 CLINVAR
dbSNP (RS) rs202064075 CLINVAR
MedGen C1846343 CLINVAR
  C3661900 CLINVAR
NCBI Gene CLCNKB CLINVAR
  LOC106501713 CLINVAR
OMIM 602023 CLINVAR
  607364 CLINVAR
  613090 CLINVAR