RGD:13528267 Rat Genome Database

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Variant: RGD:13528267 -  Homo sapiens

RGD ID: 13528267
RS ID: rs143759519
ClinVar ID: CV513344
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PYGL  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 14 51,382,637
GRCh38 14 50,915,919
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000014.8:g.51382637G>A
NG_012796.1:g.33612C>T
NC_000014.9:g.50915919G>A
NP_001157412.1:p.Pro348Leu
More... 		12/31/2019 missense variant likely benign|conflicting interpretations of pathogenicity|uncertain significance AllHighlyPenetrant; Glycogen storage disease type 6; GSD VI; Hepatic glycogen phosphorylase deficiency; Hers disease; none provided; Phosphorylase deficiency glycogen-storage disease of liver
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PYGL
Accession:NM_001163940
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 348
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAKPLTDQEKRRQISIRGIVGVENVAELKKSFNRHLHFTLVKDRNVATTRDYYFALAHTVRDHLVGRWIRTQQHYYDKCP
KLGLDIEELEEIEEDAGLGNGGLGRLAACFLDSMATLGLAAYGYGIRYEYGIFNQKIRDGWQVEEADDWLRYGNPWEKSR
PEFMLPVHFYGKVEHTNTGTKWIDTQVVLALPYDTPVPGYMNNTVNTMRLWSARAPNDFNLRDFNVGDYIQAVLDRNLAE
NISRVLYPNDNFFEGKELRLKQEYFVVAATLQDIIRRFKASKFGSTRGAGTVFDAFPDQVAIQLNDTHPALAIPELMRIF
VDIEKLPWSKAWELTQKTFAYTNHTVLLEALERWPVDLVEKLLPRHLEIIYEINQKHLDRIVALFPKDVDRLRRMSLIEE
EGSKRINMAHLCIVGSHAVNGVAKIHSDIVKTKVFKDFSELEPDKFQNKTNGITPRRWLLLCNPGLAELIAEKIGEDYVK
DLSQLTKLHSFLGDDVFLRELAKVKQENKLKFSQFLETEYKVKINPSSMFDVQVKRIHEYKRQLLNCLHVITMYNRIKKD
PKKLFVPRTVIIGGKAAPGYHMAKMIIKLITSVADVVNNDPMVGSKLKVIFLENYRVSLAEKVIPATDLSEQISTAGTEA
SGTGNMKFMLNGALTIGTMDGANVEMAEEAGEENLFIFGMRIDDVAALDKKGYEAKEYYEALPELKLVIDQIDNGFFSPK
QPDLFKDIINMLFYHDRFKVFADYEAYVKCQDKVSQLYMNPKAWNTMVLKNIAASGKFSSDRTIKEYAQNIWNVEPSDLK
ISLSNESNKVNGN*

Gene Symbol:PYGL
Accession:NM_002863
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 382
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAKPLTDQEKRRQISIRGIVGVENVAELKKSFNRHLHFTLVKDRNVATTRDYYFALAHTVRDHLVGRWIRTQQHYYDKCP
KRVYYLSLEFYMGRTLQNTMINLGLQNACDEAIYQLGLDIEELEEIEEDAGLGNGGLGRLAACFLDSMATLGLAAYGYGI
RYEYGIFNQKIRDGWQVEEADDWLRYGNPWEKSRPEFMLPVHFYGKVEHTNTGTKWIDTQVVLALPYDTPVPGYMNNTVN
TMRLWSARAPNDFNLRDFNVGDYIQAVLDRNLAENISRVLYPNDNFFEGKELRLKQEYFVVAATLQDIIRRFKASKFGST
RGAGTVFDAFPDQVAIQLNDTHPALAIPELMRIFVDIEKLPWSKAWELTQKTFAYTNHTVLLEALERWPVDLVEKLLPRH
LEIIYEINQKHLDRIVALFPKDVDRLRRMSLIEEEGSKRINMAHLCIVGSHAVNGVAKIHSDIVKTKVFKDFSELEPDKF
QNKTNGITPRRWLLLCNPGLAELIAEKIGEDYVKDLSQLTKLHSFLGDDVFLRELAKVKQENKLKFSQFLETEYKVKINP
SSMFDVQVKRIHEYKRQLLNCLHVITMYNRIKKDPKKLFVPRTVIIGGKAAPGYHMAKMIIKLITSVADVVNNDPMVGSK
LKVIFLENYRVSLAEKVIPATDLSEQISTAGTEASGTGNMKFMLNGALTIGTMDGANVEMAEEAGEENLFIFGMRIDDVA
ALDKKGYEAKEYYEALPELKLVIDQIDNGFFSPKQPDLFKDIINMLFYHDRFKVFADYEAYVKCQDKVSQLYMNPKAWNT
MVLKNIAASGKFSSDRTIKEYAQNIWNVEPSDLKISLSNESNKVNGN*
Variant Samples
Additional References at PubMed
PMID:21646031   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000625936 CLINVAR
  RCV003311865 CLINVAR
  RCV003488738 CLINVAR
  RCV003917992 CLINVAR
dbSNP (RS) rs143759519 CLINVAR
MedGen C0017925 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene PYGL CLINVAR
OMIM 232700 CLINVAR
  613741 CLINVAR
SNOMED CT 29291001 CLINVAR