RGD:15123950 Rat Genome Database

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Variant: RGD:15123950 -  Homo sapiens

RGD ID: 15123950
RS ID: rs1589133691
ClinVar ID: CV752126
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PRKG1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 10 52,834,422
GRCh38 10 51,074,662
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001098512.3:c.267-78502C>G
NM_006258.3:c.72C>G
NP_001361711.1:p.Leu24=
NP_006249.1:p.Leu24=
More... 		01/09/2018 intron variant likely benign
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PRKG1
Accession:XM_017016413
Location:5UTRS;EXON

Gene Symbol:PRKG1
Accession:NM_001374782
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 24
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGTLRDLQYALQEKIEELRQRDALIDELELELDQKDELIQKLQNELDKYRSVIRPATQQAQKQSASTLQGEPRTKRQAIS
AEPTAFDIQDLSHVTLPFYPKSPQSKDLIKEAILDNDFMKNLELSQIQEIVDCMYPVEYGKDSCIIKEGDVGSLVYVMED
GKVEVTKEGVKLCTMGPGKVFGELAILYNCTRTATVKTLVNVKLWAIDRQCFQTIMMRTGLIKHTEYMEFLKSVPTFQSL
PEEILSKLADVLEETHYENGEYIIRQGARGDTFFIISKGTVNVTREDSPSEDPVFLRTLGKGDWFGEKALQG*

Gene Symbol:PRKG1
Accession:NM_006258
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 24
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGTLRDLQYALQEKIEELRQRDALIDELELELDQKDELIQKLQNELDKYRSVIRPATQQAQKQSASTLQGEPRTKRQAIS
AEPTAFDIQDLSHVTLPFYPKSPQSKDLIKEAILDNDFMKNLELSQIQEIVDCMYPVEYGKDSCIIKEGDVGSLVYVMED
GKVEVTKEGVKLCTMGPGKVFGELAILYNCTRTATVKTLVNVKLWAIDRQCFQTIMMRTGLIKHTEYMEFLKSVPTFQSL
PEEILSKLADVLEETHYENGEYIIRQGARGDTFFIISKGTVNVTREDSPSEDPVFLRTLGKGDWFGEKALQGEDVRTANV
IAAEAVTCLVIDRDSFKHLIGGLDDVSNKAYEDAEAKAKYEAEAAFFANLKLSDFNIIDTLGVGGFGRVELVQLKSEESK
TFAMKILKKRHIVDTRQQEHIRSEKQIMQGAHSDFIVRLYRTFKDSKYLYMLMEACLGGELWTILRDRGSFEDSTTRFYT
ACVVEAFAYLHSKGIIYRDLKPENLILDHRGYAKLVDFGFAKKIGFGKKTWTFCGTPEYVAPEIILNKGHDISADYWSLG
ILMYELLTGSPPFSGPDPMKTYNIILRGIDMIEFPKKIAKNAANLIKKLCRDNPSERLGNLKNGVKDIQKHKWFEGFNWE
GLRKGTLTPPIIPSVASPTDTSNFDSFPEDNDEPPPDDNSGWDIDF*

Gene Symbol:PRKG1
Accession:XM_011539952
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 24
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGTLRDLQYALQEKIEELRQRDALIDELELELDQKDELIQKLQNELDKYRSVIRPATQQAQKQSASTLQGEPRTKRQAIS
AEPTAFDIQDLSHVTLPFYPKSPQSKDLIKEAILDNDFMKNLELSQIQEIVDCMYPVEYGKDSCIIKEGDVGSLVYVMED
GKVEVTKEGVKLCTMGPGKVFGELAILYNCTRTATVKTLVNVKLWAIDRQCFQTIMMRTGLIKHTEYMEFLKSVPTFQSL
PEEILSKLADVLEETHYENGEYIIRQGARGDTFFIISKGTVNVTREDSPSEDPVFLRTLGKGDWFGEKALQGEDVRTANV
IAAEAVTCLVIDRDSFKHLIGGLDDVSNKAYEDAEAKAKFIREHNAGICYCCGPQKASNYGRRQRRSRHITWQEQKQERV
GEVPDF*

Gene Symbol:PRKG1
Accession:NM_001374781
Location:INTRON

Gene Symbol:PRKG1
Accession:NM_001098512
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001498011 CLINVAR
dbSNP (RS) rs1589133691 CLINVAR
MedGen C3809513 CLINVAR
NCBI Gene PRKG1 CLINVAR
OMIM 176894 CLINVAR
  615436 CLINVAR