RGD:12896732 Rat Genome Database

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Variant: RGD:12896732 -  Homo sapiens

RGD ID: 12896732
RS ID: rs143663847
ClinVar ID: CV389334
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLCNKB  LOC106501713  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 16,382,201
GRCh38 1 16,055,706
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000085.5:c.1877G>A
NG_013079.1:g.16955G>A
NC_000001.11:g.16055706G>A
NC_000001.10:g.16382201G>A
More... 		01/22/2020 missense variant benign|likely benign AllHighlyPenetrant; Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD; 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: C to Y (nonsynonymous)
Amino Acid Position: 626
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEFVGLREGSSGNPVTLQELWGPCPRIRRGIRGGLEWLKQKLFRLGEDWYFLMTLGVLMALVSCAMDLAVESVVRAHQW
LYREIGDSHLLRYLSWTVYPVALVSFSSGFSQSITPSSGGSGIPEVKTMLAGVVLEDYLDIKNFGAKVVGLSCTLACGST
LFLGKVGPFVHLSVMMAAYLGRVRTTTIGEPENKSKQNEMLVAAAAVGVATVFAAPFSGVLFSIEVMSSHFSVWDYWRGF
FAATCGAFMFRLLAVFNSEQETITSLYKTSFRVDVPFDLPEIFFFVALGGLCGILGSAYLFCQRIFFGFIRNNRFSSKLL
ATSKPVYSALATLVLASITYPPSAGRFLASRLSMKQHLDSLFDNHSWALMTQNSSPPWPEELDPQHLWWEWYHPRFTIFG
TLAFFLVMKFWMLILATTIPMPAGYFMPIFVYGAAIGRLFGETLSFIFPEGIVAGGITNPIMPGGYALAGAAAFSGAVTH
TISTALLAFEVTGQIVHALPVLMAVLAANAIAQSCQPSFYDGTVIVKKLPYLPRILGRNIGSHRVRVEHFMNHSITTLAK
DMPLEEVVKVVTSTDVAKYPLVESTESQILVGIVRRAQLVQALKAEPPSWAPGHQQCLQDILAAGYPTEPVTLKLSPETS
LHEAHNLFELLNLHSLFVTSRGRAVGCVSWVEMKKAISNLTNPPAPK*

Gene Symbol:CLCNKB
Accession:NM_001165945
Location:EXON
Amino Acid Prediction: C to Y (nonsynonymous)
Amino Acid Position: 456
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPCPPLLSVPVRAAGEQDRWVREEVTWGGGPTVTGGWGWRAHLRSVSPPGVLFSIEVMSSHFSVWDYWRGFFAATCGAFM
FRLLAVFNSEQETITSLYKTSFRVDVPFDLPEIFFFVALGGLCGILGSAYLFCQRIFFGFIRNNRFSSKLLATSKPVYSA
LATLVLASITYPPSAGRFLASRLSMKQHLDSLFDNHSWALMTQNSSPPWPEELDPQHLWWEWYHPRFTIFGTLAFFLVMK
FWMLILATTIPMPAGYFMPIFVYGAAIGRLFGETLSFIFPEGIVAGGITNPIMPGGYALAGAAAFSGAVTHTISTALLAF
EVTGQIVHALPVLMAVLAANAIAQSCQPSFYDGTVIVKKLPYLPRILGRNIGSHRVRVEHFMNHSITTLAKDMPLEEVVK
VVTSTDVAKYPLVESTESQILVGIVRRAQLVQALKAEPPSWAPGHQCLQDILAAGYPTEPVTLKLSPETSLHEAHNLFEL
LNLHSLFVTSRGRAVGCVSWVEMKKAISNLTNPPAPK*
Variant Samples
Additional References at PubMed
PMID:21415153   PMID:24033266   PMID:25741868   PMID:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000455750 CLINVAR
  RCV000711253 CLINVAR
  RCV001258278 CLINVAR
dbSNP (RS) rs143663847 CLINVAR
MedGen C3661900 CLINVAR
  C4310676 CLINVAR
  CN169374 CLINVAR
NCBI Gene 106501713 CLINVAR
  CLCNKB CLINVAR
OMIM 602023 CLINVAR
  617184 CLINVAR