RGD:14350127 Rat Genome Database

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Variant: RGD:14350127 -  Homo sapiens

RGD ID: 14350127
RS ID: rs201805961
ClinVar ID: CV590909
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PYGB  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 20 25,273,119
GRCh38 20 25,292,483
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000020.11:g.25292483A>G
NM_002862.3:c.2047A>G
NC_000020.10:g.25273119A>G
NM_002862.4:c.2047A>G
More... 		10/12/2022 missense variant likely pathogenic|uncertain significance
Disease Annotations     Click to see Annotation Detail View
Dwarfism  (IAGP)
genetic disease  (IAGP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Short stature  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:PYGB
Accession:NM_002862
Location:EXON
Amino Acid Prediction: M to V (nonsynonymous)
Amino Acid Position: 683
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAKPLTDSEKRKQISVRGLAGLGDVAEVRKSFNRHLHFTLVKDRNVATPRDYFFALAHTVRDHLVGRWIRTQQHYYERDP
KRIYYLSLEFYMGRTLQNTMVNLGLQNACDEAIYQLGLDLEELEEIEEDAGLGNGGLGRLAACFLDSMATLGLAAYGYGI
RYEFGIFNQKIVNGWQVEEADDWLRYGNPWEKARPEYMLPVHFYGRVEHTPDGVKWLDTQVVLAMPYDTPVPGYKNNTVN
TMRLWSAKAPNDFKLQDFNVGDYIEAVLDRNLAENISRVLYPNDNFFEGKELRLKQEYFVVAATLQDIIRRFKSSKFGCR
DPVRTCFETFPDKVAIQLNDTHPALSIPELMRILVDVEKVDWDKAWEITKKTCAYTNHTVLPEALERWPVSMFEKLLPRH
LEIIYAINQRHLDHVAALFPGDVDRLRRMSVIEEGDCKRINMAHLCVIGSHAVNGVARIHSEIVKQSVFKDFYELEPEKF
QNKTNGITPRRWLLLCNPGLADTIVEKIGEEFLTDLSQLKKLLPLVSDEVFIRDVAKVKQENKLKFSAFLEKEYKVKINP
SSMFDVHVKRIHEYKRQLLNCLHVVTLYNRIKRDPAKAFVPRTVMIGGKAAPGYHMAKLIIKLVTSIGDVVNHDPVVGDR
LKVIFLENYRVSLAEKVIPAADLSQQISTAGTEASGTGNMKFVLNGALTIGTMDGANVEMAEEAGAENLFIFGLRVEDVE
ALDRKGYNAREYYDHLPELKQAVDQISSGFFSPKEPDCFKDIVNMLMHHDRFKVFADYEAYMQCQAQVDQLYRNPKEWTK
KVIRNIACSGKFSSDRTITEYAREIWGVEPSDLQIPPPNIPRD*

Gene Symbol:PYGB
Accession:XM_047440342
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000736182 CLINVAR
  RCV002533765 CLINVAR
dbSNP (RS) rs201805961 CLINVAR
MedGen C0349588 CLINVAR
  C0950123 CLINVAR
NCBI Gene PYGB CLINVAR
OMIM 138550 CLINVAR