RGD:15156423 Rat Genome Database

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Variant: RGD:15156423 -  Homo sapiens

RGD ID: 15156423
RS ID: rs148100548
ClinVar ID: CV734522
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HPGD  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 4 175,416,765
GRCh38 4 174,495,614
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001256306.2:c.228C>T
NM_001256301.1:c.69C>T
NG_011689.1:g.32028C>T
NC_000004.12:g.174495614G>A
More... 		04/05/2018 intron variant benign|likely benign ACROPACHY, HEREDITARY; CLUBBING OF DIGITS; none provided; PHO, AUTOSOMAL RECESSIVE
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:HPGD
Accession:NM_001256307
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 23
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSKQNGGEGGIIINMSSLAGLMPVAQQPVYCASKHGIVGFTRSAALAANLMNSGVRLNAICPGFVNTAILESIEKEENMG
QYIEYKDHIKDMIKYYGILDPPLIANGLITLIEDDALNGAIMKITTSKGIHFQDYDTTPFQAKTQ*

Gene Symbol:HPGD
Accession:NM_000860
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 144
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHVNGKVALVTGAAQGIGRAFAEALLLKGAKVALVDWNLEAGVQCKAALDEQFEPQKTLFIQCDVADQQQLRDTFRKVVD
HFGRLDILVNNAGVNNEKNWEKTLQINLVSVISGTYLGLDYMSKQNGGEGGIIINMSSLAGLMPVAQQPVYCASKHGIVG
FTRSAALAANLMNSGVRLNAICPGFVNTAILESIEKEENMGQYIEYKDHIKDMIKYYGILDPPLIANGLITLIEDDALNG
AIMKITTSKGIHFQDYDTTPFQAKTQ*

Gene Symbol:HPGD
Accession:NM_001256301
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 23
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSKQNGGEGGIIINMSSLAGLMPVAQQPVYCASKHGIVGFTRSAALAANLMNSGVRLNAICPGFVNTAILESIEKEENMG
QYIEYKDHIKDMIKYYGILDPPLIANGLITLIEDDALNGAIMKITTSKGIHFQDYDTTPFQAKTQ*

Gene Symbol:HPGD
Accession:NM_001145816
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 144
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHVNGKVALVTGAAQGIGRAFAEALLLKGAKVALVDWNLEAGVQCKAALDEQFEPQKTLFIQCDVADQQQLRDTFRKVVD
HFGRLDILVNNAGVNNEKNWEKTLQINLVSVISGTYLGLDYMSKQNGGEGGIIINMSSLAGLMPVAQQPVYCASKHGIVG
FTRSAAPTIDCQWIDNTH*

Gene Symbol:HPGD
Accession:NM_001256306
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 76
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHVNGKVALVTGAAQGIGRAFAEALLLKGAKVALVDWNLEAGVQCKAALDEQFEPQKTLFIQCDVADQQQLRGLMPVAQQ
PVYCASKHGIVGFTRSAALAANLMNSGVRLNAICPGFVNTAILESIEKEENMGQYIEYKDHIKDMIKYYGILDPPLIANG
LITLIEDDALNGAIMKITTSKGIHFQDYDTTPFQAKTQ*

Gene Symbol:HPGD
Accession:NM_001363574
Location:INTRON

Gene Symbol:HPGD
Accession:NM_001256305
Location:INTRON

Gene Symbol:HPGD
Accession:XR_938728
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000902327 CLINVAR
  RCV001151011 CLINVAR
  RCV001151012 CLINVAR
  RCV003968270 CLINVAR
dbSNP (RS) rs148100548 CLINVAR
MedGen C0345408 CLINVAR
  C3661900 CLINVAR
  C4551679 CLINVAR
NCBI Gene HPGD CLINVAR
OMIM 119900 CLINVAR
  259100 CLINVAR
  601688 CLINVAR