RGD:155717645 Rat Genome Database

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Variant: RGD:155717645 -  Homo sapiens

RGD ID: 155717645
ClinVar ID: CV1827601
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DOLK  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 131,707,997
GRCh38 9 128,945,718
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_744t1:c.1586C>T
LRG_744p1:p.Pro529Leu
NP_055723.1:p.Pro529Leu
NP_055723.1:p.Pro529Leu
More... 		03/06/2020 missense variant uncertain significance

Variant Details
Variant Transcripts
Gene Symbol:DOLK
Accession:NM_014908
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 529
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTRECPSPAPGPGAPLSGSVLAEAAVVFAVVLSIHATVWDRYSWCAVALAVQAFYVQYKWDRLLQQGSAVFQFRMSANSG
LLPASMVMPLLGLVMKERCQTAGNPFFERFGIVVAATGMAVALFSSVLALGITRPVPTNTCVILGLAGGVIIYIMKHSLS
VGEVIEVLEVLLIFVYLNMILLYLLPRCFTPGEALLVLGGISFVLNQLIKRSLTLVESQGDPVDFFLLVVVVGMVLMGIF
FSTLFVFMDSGTWASSIFFHLMTCVLSLGVVLPWLHRLIRRNPLLWLLQFLFQTDTRIYLLAYWSLLATLACLVVLYQNA
KRSSSESKKHQAPTIARKYFHLIVVATYIPGIIFDRPLLYVAATVCLAVFIFLEYVRYFRIKPLGHTLRSFLSLFLDERD
SGPLILTHIYLLLGMSLPIWLIPRPCTQKGSLGGARALVPYAGVLAVGVGDTVASIFGSTMGEIRWPGTKKTFEGTMTSI
FAQIISVALILIFDSGVDLNYSYAWILGSISTVSLLEAYTTQIDNLLLLLYLLILLMA*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002398318 CLINVAR
MedGen CN230736 CLINVAR
NCBI Gene DOLK CLINVAR
OMIM 610746 CLINVAR