RGD:11592780 Rat Genome Database

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Variant: RGD:11592780 -  Homo sapiens

RGD ID: 11592780
RS ID: rs117270501
ClinVar ID: CV292865
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HPGD  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 4 175,413,228
GRCh38 4 174,492,077
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_011689.1:g.35565A>G
NC_000004.12:g.174492077T>C
NC_000004.11:g.175413228T>C
NP_000851.2:p.Asn227Ser
More... 		06/05/2020 3 prime utr variant benign|likely benign|uncertain significance childhood|infancy <1 / 1 000 000 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_001256305
Location:3UTRS;EXON

Gene Symbol:HPGD
Accession:NM_001256301
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 106
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSKQNGGEGGIIINMSSLAGLMPVAQQPVYCASKHGIVGFTRSAALAANLMNSGVRLNAICPGFVNTAILESIEKEENMG
QYIEYKDHIKDMIKYYGILDPPLIASGLITLIEDDALNGAIMKITTSKGIHFQDYDTTPFQAKTQ*

Gene Symbol:HPGD
Accession:NM_001256306
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 159
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHVNGKVALVTGAAQGIGRAFAEALLLKGAKVALVDWNLEAGVQCKAALDEQFEPQKTLFIQCDVADQQQLRGLMPVAQQ
PVYCASKHGIVGFTRSAALAANLMNSGVRLNAICPGFVNTAILESIEKEENMGQYIEYKDHIKDMIKYYGILDPPLIASG
LITLIEDDALNGAIMKITTSKGIHFQDYDTTPFQAKTQ*

Gene Symbol:HPGD
Accession:NM_001145816
Location:EXON
Amino Acid Prediction: Q to Q (synonymous)
Amino Acid Position: 172
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHVNGKVALVTGAAQGIGRAFAEALLLKGAKVALVDWNLEAGVQCKAALDEQFEPQKTLFIQCDVADQQQLRDTFRKVVD
HFGRLDILVNNAGVNNEKNWEKTLQINLVSVISGTYLGLDYMSKQNGGEGGIIINMSSLAGLMPVAQQPVYCASKHGIVG
FTRSAAPTIDCQWIDNTH*

Gene Symbol:HPGD
Accession:NM_000860
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 227
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHVNGKVALVTGAAQGIGRAFAEALLLKGAKVALVDWNLEAGVQCKAALDEQFEPQKTLFIQCDVADQQQLRDTFRKVVD
HFGRLDILVNNAGVNNEKNWEKTLQINLVSVISGTYLGLDYMSKQNGGEGGIIINMSSLAGLMPVAQQPVYCASKHGIVG
FTRSAALAANLMNSGVRLNAICPGFVNTAILESIEKEENMGQYIEYKDHIKDMIKYYGILDPPLIASGLITLIEDDALNG
AIMKITTSKGIHFQDYDTTPFQAKTQ*

Gene Symbol:HPGD
Accession:NM_001256307
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 106
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSKQNGGEGGIIINMSSLAGLMPVAQQPVYCASKHGIVGFTRSAALAANLMNSGVRLNAICPGFVNTAILESIEKEENMG
QYIEYKDHIKDMIKYYGILDPPLIASGLITLIEDDALNGAIMKITTSKGIHFQDYDTTPFQAKTQ*

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:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000342547 CLINVAR
  RCV000376241 CLINVAR
  RCV000890095 CLINVAR
  RCV003932415 CLINVAR
dbSNP (RS) rs117270501 CLINVAR
MedGen C0345408 CLINVAR
  C3661900 CLINVAR
  C4551679 CLINVAR
NCBI Gene HPGD CLINVAR
OMIM 119900 CLINVAR
  259100 CLINVAR
  601688 CLINVAR