RGD:15150253 Rat Genome Database

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Variant: RGD:15150253 -  Homo sapiens

RGD ID: 15150253
RS ID: rs6698427
ClinVar ID: CV706800
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLCNKB  LOC106501713  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 16,383,402
GRCh38 1 16,056,907
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.12415C>T
NG_013079.1:g.18156C>T
NC_000001.11:g.16056907C>T
NC_000001.10:g.16383402C>T
More... 		07/20/2021 synonymous variant benign|likely benign 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: A to A (synonymous)
Amino Acid Position: 685
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEFVGLREGSSGNPVTLQELWGPCPRIRRGIRGGLEWLKQKLFRLGEDWYFLMTLGVLMALVSCAMDLAVESVVRAHQW
LYREIGDSHLLRYLSWTVYPVALVSFSSGFSQSITPSSGGSGIPEVKTMLAGVVLEDYLDIKNFGAKVVGLSCTLACGST
LFLGKVGPFVHLSVMMAAYLGRVRTTTIGEPENKSKQNEMLVAAAAVGVATVFAAPFSGVLFSIEVMSSHFSVWDYWRGF
FAATCGAFMFRLLAVFNSEQETITSLYKTSFRVDVPFDLPEIFFFVALGGLCGILGSAYLFCQRIFFGFIRNNRFSSKLL
ATSKPVYSALATLVLASITYPPSAGRFLASRLSMKQHLDSLFDNHSWALMTQNSSPPWPEELDPQHLWWEWYHPRFTIFG
TLAFFLVMKFWMLILATTIPMPAGYFMPIFVYGAAIGRLFGETLSFIFPEGIVAGGITNPIMPGGYALAGAAAFSGAVTH
TISTALLAFEVTGQIVHALPVLMAVLAANAIAQSCQPSFYDGTVIVKKLPYLPRILGRNIGSHRVRVEHFMNHSITTLAK
DMPLEEVVKVVTSTDVAKYPLVESTESQILVGIVRRAQLVQALKAEPPSWAPGHQQCLQDILAAGCPTEPVTLKLSPETS
LHEAHNLFELLNLHSLFVTSRGRAVGCVSWVEMKKAISNLTNPPAPK*

Gene Symbol:CLCNKB
Accession:NM_001165945
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 515
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPCPPLLSVPVRAAGEQDRWVREEVTWGGGPTVTGGWGWRAHLRSVSPPGVLFSIEVMSSHFSVWDYWRGFFAATCGAFM
FRLLAVFNSEQETITSLYKTSFRVDVPFDLPEIFFFVALGGLCGILGSAYLFCQRIFFGFIRNNRFSSKLLATSKPVYSA
LATLVLASITYPPSAGRFLASRLSMKQHLDSLFDNHSWALMTQNSSPPWPEELDPQHLWWEWYHPRFTIFGTLAFFLVMK
FWMLILATTIPMPAGYFMPIFVYGAAIGRLFGETLSFIFPEGIVAGGITNPIMPGGYALAGAAAFSGAVTHTISTALLAF
EVTGQIVHALPVLMAVLAANAIAQSCQPSFYDGTVIVKKLPYLPRILGRNIGSHRVRVEHFMNHSITTLAKDMPLEEVVK
VVTSTDVAKYPLVESTESQILVGIVRRAQLVQALKAEPPSWAPGHQCLQDILAAGCPTEPVTLKLSPETSLHEAHNLFEL
LNLHSLFVTSRGRAVGCVSWVEMKKAISNLTNPPAPK*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000967908 CLINVAR
  RCV002503045 CLINVAR
dbSNP (RS) rs6698427 CLINVAR
MedGen C1846343 CLINVAR
  C3661900 CLINVAR
NCBI Gene 106501713 CLINVAR
  CLCNKB CLINVAR
OMIM 602023 CLINVAR
  607364 CLINVAR
  613090 CLINVAR