RGD:28893413 Rat Genome Database

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Variant: RGD:28893413 -  Homo sapiens

RGD ID: 28893413
RS ID: rs1188080726
ClinVar ID: CV864623
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BSND  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 55,472,691
GRCh38 1 55,007,018
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008965.2:g.13086T>C
NC_000001.11:g.55007018T>C
NC_000001.10:g.55472691T>C
NM_057176.3:c.294T>C
More... 		08/20/2020 synonymous variant likely benign|uncertain significance Bartter syndrome with sensorineural deafness; BARTTER SYNDROME, NEONATAL, WITH SENSORINEURAL DEAFNESS; BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:BSND
Accession:NM_057176
Location:EXON
Amino Acid Prediction: Y to Y (synonymous)
Amino Acid Position: 98
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 RCV001100953 CLINVAR
  RCV001434231 CLINVAR
dbSNP (RS) rs1188080726 CLINVAR
MedGen C1865270 CLINVAR
  C3661900 CLINVAR
NCBI Gene BSND CLINVAR
OMIM 602522 CLINVAR
  606412 CLINVAR