RGD:11644109 Rat Genome Database

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Variant: RGD:11644109 -  Homo sapiens

RGD ID: 11644109
RS ID: rs139715202
ClinVar ID: CV273624
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HPGD  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 4 175,416,764
GRCh38 4 174,495,613
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_011689.1:g.32029G>A
NC_000004.12:g.174495613C>T
NC_000004.11:g.175416764C>T
NP_000851.2:p.Val145Ile
More...
12/15/2021 intron variant uncertain significance 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_001145816
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 145
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHVNGKVALVTGAAQGIGRAFAEALLLKGAKVALVDWNLEAGVQCKAALDEQFEPQKTLFIQCDVADQQQLRDTFRKVVD
HFGRLDILVNNAGVNNEKNWEKTLQINLVSVISGTYLGLDYMSKQNGGEGGIIINMSSLAGLMPIAQQPVYCASKHGIVG
FTRSAAPTIDCQWIDNTH*

Gene Symbol:HPGD
Accession:NM_000860
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 145
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHVNGKVALVTGAAQGIGRAFAEALLLKGAKVALVDWNLEAGVQCKAALDEQFEPQKTLFIQCDVADQQQLRDTFRKVVD
HFGRLDILVNNAGVNNEKNWEKTLQINLVSVISGTYLGLDYMSKQNGGEGGIIINMSSLAGLMPIAQQPVYCASKHGIVG
FTRSAALAANLMNSGVRLNAICPGFVNTAILESIEKEENMGQYIEYKDHIKDMIKYYGILDPPLIANGLITLIEDDALNG
AIMKITTSKGIHFQDYDTTPFQAKTQ*

Gene Symbol:HPGD
Accession:NM_001256306
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 77
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHVNGKVALVTGAAQGIGRAFAEALLLKGAKVALVDWNLEAGVQCKAALDEQFEPQKTLFIQCDVADQQQLRGLMPIAQQ
PVYCASKHGIVGFTRSAALAANLMNSGVRLNAICPGFVNTAILESIEKEENMGQYIEYKDHIKDMIKYYGILDPPLIANG
LITLIEDDALNGAIMKITTSKGIHFQDYDTTPFQAKTQ*

Gene Symbol:HPGD
Accession:NM_001256307
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 24
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSKQNGGEGGIIINMSSLAGLMPIAQQPVYCASKHGIVGFTRSAALAANLMNSGVRLNAICPGFVNTAILESIEKEENMG
QYIEYKDHIKDMIKYYGILDPPLIANGLITLIEDDALNGAIMKITTSKGIHFQDYDTTPFQAKTQ*

Gene Symbol:HPGD
Accession:NM_001256301
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 24
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSKQNGGEGGIIINMSSLAGLMPIAQQPVYCASKHGIVGFTRSAALAANLMNSGVRLNAICPGFVNTAILESIEKEENMG
QYIEYKDHIKDMIKYYGILDPPLIANGLITLIEDDALNGAIMKITTSKGIHFQDYDTTPFQAKTQ*

Gene Symbol:HPGD
Accession:NM_001256305
Location:INTRON

Gene Symbol:HPGD
Accession:NM_001363574
Location:INTRON

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000406545 CLINVAR
  RCV001151009 CLINVAR
  RCV001151010 CLINVAR
dbSNP (RS) rs139715202 CLINVAR
MedGen C0345408 CLINVAR
  C3661900 CLINVAR
  C4551679 CLINVAR
NCBI Gene HPGD CLINVAR
OMIM 119900 CLINVAR
  259100 CLINVAR
  601688 CLINVAR