RGD:127239190 Rat Genome Database

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Variant: RGD:127239190 -  Homo sapiens

RGD ID: 127239190
RS ID: rs752911029
ClinVar ID: CV1089191
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BSND  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 55,472,685
GRCh38 1 55,007,012
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1282t1:c.288G>A
NM_057176.3:c.288G>A
LRG_1282:g.13080G>A
LRG_1282p1:p.Pro96=
More... 		10/26/2020 synonymous variant likely benign 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: P to P (synonymous)
Amino Acid Position: 96
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADEKTFRIGFIVLGLFLLALGTFLMSHDRPQVYGTFYAMGSVMVIGGIIWSMCQCYPKITFVPADSDFQGILSPKAMGL
LENGLAAEMKSPSPQPPYVRLWEEAAYDQSLPDFSHIQMKVMSYSEDHRSLLAPEMGQPKLGTSDGGEGGPGDVQAWMEA
AVVIHKGSDESEGERRLTQSWPGPLACPQGPAPLASFQDDLDMDSSEGSSPNASPHDREEACSPQQEPQGCRCPLDRFQD
FALIDAPTLEDEPQEGQQWEIALPNNWQRYPRTKVEEKEASDTGGEEPEKEEEDLYYGLPDGAGDLLPDKELGFEPDTQG
*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001423076 CLINVAR
  RCV002499911 CLINVAR
dbSNP (RS) rs752911029 CLINVAR
MedGen C1865270 CLINVAR
  C3661900 CLINVAR
NCBI Gene BSND CLINVAR
OMIM 602522 CLINVAR
  606412 CLINVAR