RGD:156061417 Rat Genome Database

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Variant: RGD:156061417 -  Homo sapiens

RGD ID: 156061417
ClinVar ID: CV2099973
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KLHL9  LOC107987053  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 21,333,682
GRCh38 9 21,333,683
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_061335.1:p.His393Tyr
NM_018847.4:c.1177C>T
NG_051240.1:g.6750C>T
NC_000009.12:g.21333683G>A
More... 		08/22/2022 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:KLHL9
Accession:NM_018847
Location:EXON
Amino Acid Prediction: H to Y (nonsynonymous)
Amino Acid Position: 393
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKVSLGNGEMGVSAHLQPCKAGTTRFFTSNTHSSVVLQGFDQLRIEGLLCDVTLVPGDGDEIFPVHRAMMASASDYFKAM
FTGGMKEQDLMCIKLHGVNKVGLKKIIDFIYTAKLSLNMDNLQDTLEAASFLQILPVLDFCKVFLISGVSLDNCVEVGRI
ANTYNLIEVDKYVNNFILKNFPALLSTGEFLKLPFERLAFVLSSNSLKHCTELELFKAACRWLRLEDPRMDYAAKLMKNI
RFPLMTPQDLINYVQTVDFMRTDNTCVNLLLEASNYQMMPYMQPVMQSDRTAIRSDSTHLVTLGGVLRQQLVVSKELRMY
DERAQEWRSLAPMDAPRYQHGIAVIGNFLYVVGGQSNYDTKGKTAVDTVFRFDPRYNKWMQVASLNEKRTFFYLSALKGH
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 RCV002886520 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene KLHL9 CLINVAR
OMIM 611201 CLINVAR