RGD:13504477 Rat Genome Database

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Variant: RGD:13504477 -  Homo sapiens

RGD ID: 13504477
RS ID: rs766915028
ClinVar ID: CV444615
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PRKG1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 10 54,053,587
GRCh38 10 52,293,827
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000010.11:g.52293827A>G
NC_000010.10:g.54053587A>G
NP_006249.1:p.Asn663Ser
NG_029982.1:g.1307677A>G
More... 		08/23/2017 missense variant uncertain significance none provided; Thoracic aortic aneurysms and dissections
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PRKG1
Accession:NM_006258
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 663
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGTLRDLQYALQEKIEELRQRDALIDELELELDQKDELIQKLQNELDKYRSVIRPATQQAQKQSASTLQGEPRTKRQAIS
AEPTAFDIQDLSHVTLPFYPKSPQSKDLIKEAILDNDFMKNLELSQIQEIVDCMYPVEYGKDSCIIKEGDVGSLVYVMED
GKVEVTKEGVKLCTMGPGKVFGELAILYNCTRTATVKTLVNVKLWAIDRQCFQTIMMRTGLIKHTEYMEFLKSVPTFQSL
PEEILSKLADVLEETHYENGEYIIRQGARGDTFFIISKGTVNVTREDSPSEDPVFLRTLGKGDWFGEKALQGEDVRTANV
IAAEAVTCLVIDRDSFKHLIGGLDDVSNKAYEDAEAKAKYEAEAAFFANLKLSDFNIIDTLGVGGFGRVELVQLKSEESK
TFAMKILKKRHIVDTRQQEHIRSEKQIMQGAHSDFIVRLYRTFKDSKYLYMLMEACLGGELWTILRDRGSFEDSTTRFYT
ACVVEAFAYLHSKGIIYRDLKPENLILDHRGYAKLVDFGFAKKIGFGKKTWTFCGTPEYVAPEIILNKGHDISADYWSLG
ILMYELLTGSPPFSGPDPMKTYNIILRGIDMIEFPKKIAKNAANLIKKLCRDNPSERLGNLKNGVKDIQKHKWFEGFNWE
GLRKGTLTPPIIPSVASPTDTSSFDSFPEDNDEPPPDDNSGWDIDF*

Gene Symbol:PRKG1
Accession:NM_001098512
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 648
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSELEEDFAKILMLKEERIKELEKRLSEKEEEIQELKRKLHKCQSVLPVPSTHIGPRTTRAQGISAEPQTYRSFHDLRQA
FRKFTKSERSKDLIKEAILDNDFMKNLELSQIQEIVDCMYPVEYGKDSCIIKEGDVGSLVYVMEDGKVEVTKEGVKLCTM
GPGKVFGELAILYNCTRTATVKTLVNVKLWAIDRQCFQTIMMRTGLIKHTEYMEFLKSVPTFQSLPEEILSKLADVLEET
HYENGEYIIRQGARGDTFFIISKGTVNVTREDSPSEDPVFLRTLGKGDWFGEKALQGEDVRTANVIAAEAVTCLVIDRDS
FKHLIGGLDDVSNKAYEDAEAKAKYEAEAAFFANLKLSDFNIIDTLGVGGFGRVELVQLKSEESKTFAMKILKKRHIVDT
RQQEHIRSEKQIMQGAHSDFIVRLYRTFKDSKYLYMLMEACLGGELWTILRDRGSFEDSTTRFYTACVVEAFAYLHSKGI
IYRDLKPENLILDHRGYAKLVDFGFAKKIGFGKKTWTFCGTPEYVAPEIILNKGHDISADYWSLGILMYELLTGSPPFSG
PDPMKTYNIILRGIDMIEFPKKIAKNAANLIKKLCRDNPSERLGNLKNGVKDIQKHKWFEGFNWEGLRKGTLTPPIIPSV
ASPTDTSSFDSFPEDNDEPPPDDNSGWDIDF*

Gene Symbol:PRKG1
Accession:XM_017016413
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 562
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRSKDLIKEAILDNDFMKNLELSQIQEIVDCMYPVEYGKDSCIIKEGDVGSLVYVMEDGKVEVTKEGVKLCTMGPGKVF
GELAILYNCTRTATVKTLVNVKLWAIDRQCFQTIMMRTGLIKHTEYMEFLKSVPTFQSLPEEILSKLADVLEETHYENGE
YIIRQGARGDTFFIISKGTVNVTREDSPSEDPVFLRTLGKGDWFGEKALQGEDVRTANVIAAEAVTCLVIDRDSFKHLIG
GLDDVSNKAYEDAEAKAKYEAEAAFFANLKLSDFNIIDTLGVGGFGRVELVQLKSEESKTFAMKILKKRHIVDTRQQEHI
RSEKQIMQGAHSDFIVRLYRTFKDSKYLYMLMEACLGGELWTILRDRGSFEDSTTRFYTACVVEAFAYLHSKGIIYRDLK
PENLILDHRGYAKLVDFGFAKKIGFGKKTWTFCGTPEYVAPEIILNKGHDISADYWSLGILMYELLTGSPPFSGPDPMKT
YNIILRGIDMIEFPKKIAKNAANLIKKLCRDNPSERLGNLKNGVKDIQKHKWFEGFNWEGLRKGTLTPPIIPSVASPTDT
SSFDSFPEDNDEPPPDDNSGWDIDF*

Gene Symbol:PRKG1
Accession:NM_001374781
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 260
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKILKKRHIVDTRQQEHIRSEKQIMQGAHSDFIVRLYRTFKDSKYLYMLMEACLGGELWTILRDRGSFEDSTTRFYTACV
VEAFAYLHSKGIIYRDLKPENLILDHRGYAKLVDFGFAKKIGFGKKTWTFCGTPEYVAPEIILNKGHDISADYWSLGILM
YELLTGSPPFSGPDPMKTYNIILRGIDMIEFPKKIAKNAANLIKKLCRDNPSERLGNLKNGVKDIQKHKWFEGFNWEGLR
KGTLTPPIIPSVASPTDTSSFDSFPEDNDEPPPDDNSGWDIDF*

Gene Symbol:PRKG1
Accession:XM_011539952
Location:INTRON

Gene Symbol:PRKG1
Accession:NM_001374782
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000519832 CLINVAR
  RCV001339090 CLINVAR
  RCV002420319 CLINVAR
dbSNP (RS) rs766915028 CLINVAR
MedGen C3661900 CLINVAR
  C3809513 CLINVAR
  C4707243 CLINVAR
NCBI Gene PRKG1 CLINVAR
OMIM 176894 CLINVAR
  615436 CLINVAR