RGD:15105868 Rat Genome Database

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Variant: RGD:15105868 -  Homo sapiens

RGD ID: 15105868
RS ID: rs756452755
ClinVar ID: CV719024
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BSND  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 55,474,247
GRCh38 1 55,008,574
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_057176.3:c.909C>T
NG_008965.2:g.14642C>T
NC_000001.11:g.55008574C>T
NC_000001.10:g.55474247C>T
More... 		04/30/2020 synonymous variant likely benign Bartter's syndrome; none provided; Potassium wasting
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:BSND
Accession:NM_057176
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 303
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADEKTFRIGFIVLGLFLLALGTFLMSHDRPQVYGTFYAMGSVMVIGGIIWSMCQCYPKITFVPADSDFQGILSPKAMGL
LENGLAAEMKSPSPQPPYVRLWEEAAYDQSLPDFSHIQMKVMSYSEDHRSLLAPEMGQPKLGTSDGGEGGPGDVQAWMEA
AVVIHKGSDESEGERRLTQSWPGPLACPQGPAPLASFQDDLDMDSSEGSSPNASPHDREEACSPQQEPQGCRCPLDRFQD
FALIDAPTLEDEPQEGQQWEIALPNNWQRYPRTKVEEKEASDTGGEEPEKEEEDLYYGLPDGAGDLLPDKELGFEPDTQG
*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000893161 CLINVAR
  RCV001273293 CLINVAR
dbSNP (RS) rs756452755 CLINVAR
MedGen C0004775 CLINVAR
  C3661900 CLINVAR
NCBI Gene BSND CLINVAR
OMIM 606412 CLINVAR