RGD:151717043 Rat Genome Database

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Variant: RGD:151717043 -  Homo sapiens

RGD ID: 151717043
RS ID: rs1563854904
ClinVar ID: CV1513181
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KLHL9  LOC107987053  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 21,334,366
GRCh38 9 21,334,367
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_018847.4:c.493A>G
NG_051240.1:g.6066A>G
NC_000009.12:g.21334367T>C
NC_000009.11:g.21334366T>C
More... 		10/27/2021 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:KLHL9
Accession:NM_018847
Location:EXON
Amino Acid Prediction: N to D (nonsynonymous)
Amino Acid Position: 165
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKVSLGNGEMGVSAHLQPCKAGTTRFFTSNTHSSVVLQGFDQLRIEGLLCDVTLVPGDGDEIFPVHRAMMASASDYFKAM
FTGGMKEQDLMCIKLHGVNKVGLKKIIDFIYTAKLSLNMDNLQDTLEAASFLQILPVLDFCKVFLISGVSLDNCVEVGRI
ANTYDLIEVDKYVNNFILKNFPALLSTGEFLKLPFERLAFVLSSNSLKHCTELELFKAACRWLRLEDPRMDYAAKLMKNI
RFPLMTPQDLINYVQTVDFMRTDNTCVNLLLEASNYQMMPYMQPVMQSDRTAIRSDSTHLVTLGGVLRQQLVVSKELRMY
DERAQEWRSLAPMDAPRYQHGIAVIGNFLYVVGGQSNYDTKGKTAVDTVFRFDPRYNKWMQVASLNEKRTFFHLSALKGH
LYAVGGRSAAGELATVECYNPRMNEWSYVAKMSEPHYGHAGTVYGGLMYISGGITHDTFQNELMCFDPDTDKWMQKAPMT
TVRGLHCMCTVGDKLYVIGGNHFRGTSDYDDVLSCEYYSPTLDQWTPIAAMLRGQSDVGVAVFENKIYVVGGYSWNNRCM
VEIVQKYDPEKDEWHKVFDLPESLGGIRACTLTVFPPEENPGSPSRESPLSAPSDHS*

Gene Symbol:LOC107987053
Accession:XR_001746634
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001890489 CLINVAR
dbSNP (RS) rs1563854904 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene KLHL9 CLINVAR
OMIM 611201 CLINVAR