RGD:11663223 Rat Genome Database

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Variant: RGD:11663223 -  Homo sapiens

RGD ID: 11663223
RS ID: rs886046423
ClinVar ID: CV281410
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BSND  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 55,473,942
GRCh38 1 55,008,269
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000001.11:g.55008269G>A
NC_000001.10:g.55473942G>A
NP_476517.1:p.Asp202Asn
NM_057176.3:c.604G>A
More... 		06/14/2016 missense variant uncertain significance Bartter syndrome with sensorineural deafness; BARTTER SYNDROME, NEONATAL, WITH SENSORINEURAL DEAFNESS; BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:BSND
Accession:NM_057176
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 202
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADEKTFRIGFIVLGLFLLALGTFLMSHDRPQVYGTFYAMGSVMVIGGIIWSMCQCYPKITFVPADSDFQGILSPKAMGL
LENGLAAEMKSPSPQPPYVRLWEEAAYDQSLPDFSHIQMKVMSYSEDHRSLLAPEMGQPKLGTSDGGEGGPGDVQAWMEA
AVVIHKGSDESEGERRLTQSWPGPLACPQGPAPLASFQDDLNMDSSEGSSPNASPHDREEACSPQQEPQGCRCPLDRFQD
FALIDAPTLEDEPQEGQQWEIALPNNWQRYPRTKVEEKEASDTGGEEPEKEEEDLYYGLPDGAGDLLPDKELGFEPDTQG
*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000393858 CLINVAR
dbSNP (RS) rs886046423 CLINVAR
MedGen C1865270 CLINVAR
NCBI Gene BSND CLINVAR
OMIM 602522 CLINVAR
  606412 CLINVAR