RGD:401748958 Rat Genome Database

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Variant: RGD:401748958 -  Homo sapiens

RGD ID: 401748958
ClinVar ID: CV2692879
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: B4GALT3  PPOX  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 161,143,685
GRCh38 1 161,173,895
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000001.10:g.161143685C>T
NP_001186802.1:p.Arg215His
NP_001186803.1:p.Arg215His
NP_003770.1:p.Arg215His
More... 		04/07/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:B4GALT3
Accession:XM_024450540
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 215
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRRLLERPCTLALLVGSQLAVMMYLSLGGFRSLSALFGRDQGPTFDYSHPRDVYSNLSHLPGAPGGPPAPQGLPYCPER
SPLLVGPVSVSFSPVPSLAEIVERNPRVEPGGRYRPAGCEPRSRTAIIVPHRAREHHLRLLLYHLHPFLQRQQLAYGIYV
IHQAGNGTFNRAKLLNVGVREALRDEEWDCLFLHDVDLLPENDHNLYVCDPRGPLHVAVAMNKFGYSLPYPQYFGGVSAL
TPDQYLKMNGFPNEYWGWGGEDDDIATRVRLAGMKISRPPTSVGHYKMVKHRGDKGNEENPHRFDLLVRTQNSWTQDGMN
SLTYQLLARELGPLYTNITADIGTDPRGPRAPSGPRYPPGSSQAFRQEMLQRRPPARPGPLSTANHTALRGSH*

Gene Symbol:B4GALT3
Accession:XM_005245566
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 215
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRRLLERPCTLALLVGSQLAVMMYLSLGGFRSLSALFGRDQGPTFDYSHPRDVYSNLSHLPGAPGGPPAPQGLPYCPER
SPLLVGPVSVSFSPVPSLAEIVERNPRVEPGGRYRPAGCEPRSRTAIIVPHRAREHHLRLLLYHLHPFLQRQQLAYGIYV
IHQAGNGTFNRAKLLNVGVREALRDEEWDCLFLHDVDLLPENDHNLYVCDPRGPLHVAVAMNKFGYSLPYPQYFGGVSAL
TPDQYLKMNGFPNEYWGWGGEDDDIATRVRLAGMKISRPPTSVGHYKMVKHRGDKGNEENPHRFDLLVRTQNSWTQDGMN
SLTYQLLARELGPLYTNITADIGTDPRGPRAPSGPRYPPGSSQAFRQEMLQRRPPARPGPLSTANHTALRGSH*

Gene Symbol:B4GALT3
Accession:XM_024450541
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 215
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRRLLERPCTLALLVGSQLAVMMYLSLGGFRSLSALFGRDQGPTFDYSHPRDVYSNLSHLPGAPGGPPAPQGLPYCPER
SPLLVGPVSVSFSPVPSLAEIVERNPRVEPGGRYRPAGCEPRSRTAIIVPHRAREHHLRLLLYHLHPFLQRQQLAYGIYV
IHQAGNGTFNRAKLLNVGVREALRDEEWDCLFLHDVDLLPENDHNLYVCDPRGPLHVAVAMNKFGYSLPYPQYFGGVSAL
TPDQYLKMNGFPNEYWGWGGEDDDIATRVRLAGMKISRPPTSVGHYKMVKHRGDKGNEENPHRFDLLVRTQNSWTQDGMN
SLTYQLLARELGPLYTNITADIGTDPRGPRAPSGPRYPPGSSQAFRQEMLQRRPPARPGPLSTANHTALRGSH*

Gene Symbol:B4GALT3
Accession:XM_047433402
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 215
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRRLLERPCTLALLVGSQLAVMMYLSLGGFRSLSALFGRDQGPTFDYSHPRDVYSNLSHLPGAPGGPPAPQGLPYCPER
SPLLVGPVSVSFSPVPSLAEIVERNPRVEPGGRYRPAGCEPRSRTAIIVPHRAREHHLRLLLYHLHPFLQRQQLAYGIYV
IHQAGNGTFNRAKLLNVGVREALRDEEWDCLFLHDVDLLPENDHNLYVCDPRGPLHVAVAMNKFGYSLPYPQYFGGVSAL
TPDQYLKMNGFPNEYWGWGGEDDDIATRVRLAGMKISRPPTSVGHYKMVKHRGDKGNEENPHRIPGRKMG*

Gene Symbol:B4GALT3
Accession:XM_011510093
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 215
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRRLLERPCTLALLVGSQLAVMMYLSLGGFRSLSALFGRDQGPTFDYSHPRDVYSNLSHLPGAPGGPPAPQGLPYCPER
SPLLVGPVSVSFSPVPSLAEIVERNPRVEPGGRYRPAGCEPRSRTAIIVPHRAREHHLRLLLYHLHPFLQRQQLAYGIYV
IHQAGNGTFNRAKLLNVGVREALRDEEWDCLFLHDVDLLPENDHNLYVCDPRGPLHVAVAMNKFGYSLPYPQYFGGVSAL
TPDQYLKMNGFPNEYWGWGGEDDDIATRVRLAGMKISRPPTSVGHYKMVKHRGDKGNEENPHRIPGRKMG*

Gene Symbol:B4GALT3
Accession:NM_001199873
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 215
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRRLLERPCTLALLVGSQLAVMMYLSLGGFRSLSALFGRDQGPTFDYSHPRDVYSNLSHLPGAPGGPPAPQGLPYCPER
SPLLVGPVSVSFSPVPSLAEIVERNPRVEPGGRYRPAGCEPRSRTAIIVPHRAREHHLRLLLYHLHPFLQRQQLAYGIYV
IHQAGNGTFNRAKLLNVGVREALRDEEWDCLFLHDVDLLPENDHNLYVCDPRGPLHVAVAMNKFGYSLPYPQYFGGVSAL
TPDQYLKMNGFPNEYWGWGGEDDDIATRVRLAGMKISRPPTSVGHYKMVKHRGDKGNEENPHRFDLLVRTQNSWTQDGMN
SLTYQLLARELGPLYTNITADIGTDPRGPRAPSGPRYPPGSSQAFRQEMLQRRPPARPGPLSTANHTALRGSH*

Gene Symbol:B4GALT3
Accession:NM_003779
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 215
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRRLLERPCTLALLVGSQLAVMMYLSLGGFRSLSALFGRDQGPTFDYSHPRDVYSNLSHLPGAPGGPPAPQGLPYCPER
SPLLVGPVSVSFSPVPSLAEIVERNPRVEPGGRYRPAGCEPRSRTAIIVPHRAREHHLRLLLYHLHPFLQRQQLAYGIYV
IHQAGNGTFNRAKLLNVGVREALRDEEWDCLFLHDVDLLPENDHNLYVCDPRGPLHVAVAMNKFGYSLPYPQYFGGVSAL
TPDQYLKMNGFPNEYWGWGGEDDDIATRVRLAGMKISRPPTSVGHYKMVKHRGDKGNEENPHRFDLLVRTQNSWTQDGMN
SLTYQLLARELGPLYTNITADIGTDPRGPRAPSGPRYPPGSSQAFRQEMLQRRPPARPGPLSTANHTALRGSH*

Gene Symbol:B4GALT3
Accession:NM_001199874
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 215
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRRLLERPCTLALLVGSQLAVMMYLSLGGFRSLSALFGRDQGPTFDYSHPRDVYSNLSHLPGAPGGPPAPQGLPYCPER
SPLLVGPVSVSFSPVPSLAEIVERNPRVEPGGRYRPAGCEPRSRTAIIVPHRAREHHLRLLLYHLHPFLQRQQLAYGIYV
IHQAGNGTFNRAKLLNVGVREALRDEEWDCLFLHDVDLLPENDHNLYVCDPRGPLHVAVAMNKFGYSLPYPQYFGGVSAL
TPDQYLKMNGFPNEYWGWGGEDDDIATRVRLAGMKISRPPTSVGHYKMVKHRGDKGNEENPHRFDLLVRTQNSWTQDGMN
SLTYQLLARELGPLYTNITADIGTDPRGPRAPSGPRYPPGSSQAFRQEMLQRRPPARPGPLSTANHTALRGSH*

Gene Symbol:B4GALT3
Accession:XM_047433399
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 215
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRRLLERPCTLALLVGSQLAVMMYLSLGGFRSLSALFGRDQGPTFDYSHPRDVYSNLSHLPGAPGGPPAPQGLPYCPER
SPLLVGPVSVSFSPVPSLAEIVERNPRVEPGGRYRPAGCEPRSRTAIIVPHRAREHHLRLLLYHLHPFLQRQQLAYGIYV
IHQAGNGTFNRAKLLNVGVREALRDEEWDCLFLHDVDLLPENDHNLYVCDPRGPLHVAVAMNKFGYSLPYPQYFGGVSAL
TPDQYLKMNGFPNEYWGWGGEDDDIATRVRLAGMKISRPPTSVGHYKMVKHRGDKGNEENPHRFDLLVRTQNSWTQDGMN
SLTYQLLARELGPLYTNITADIGTDPRGPRAPSGPRYPPGSSQAFRQEMLQRRPPARPGPLSTANHTALRGSH*

Gene Symbol:B4GALT3
Accession:XM_017002714
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 215
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRRLLERPCTLALLVGSQLAVMMYLSLGGFRSLSALFGRDQGPTFDYSHPRDVYSNLSHLPGAPGGPPAPQGLPYCPER
SPLLVGPVSVSFSPVPSLAEIVERNPRVEPGGRYRPAGCEPRSRTAIIVPHRAREHHLRLLLYHLHPFLQRQQLAYGIYV
IHQAGNGTFNRAKLLNVGVREALRDEEWDCLFLHDVDLLPENDHNLYVCDPRGPLHVAVAMNKFGYSLPYPQYFGGVSAL
TPDQYLKMNGFPNEYWGWGGEDDDIATRVRLAGMKISRPPTSVGHYKMVKHRGDKGNEENPHRIPGRKMG*

Gene Symbol:B4GALT3
Accession:XM_047433401
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 215
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRRLLERPCTLALLVGSQLAVMMYLSLGGFRSLSALFGRDQGPTFDYSHPRDVYSNLSHLPGAPGGPPAPQGLPYCPER
SPLLVGPVSVSFSPVPSLAEIVERNPRVEPGGRYRPAGCEPRSRTAIIVPHRAREHHLRLLLYHLHPFLQRQQLAYGIYV
IHQAGNGTFNRAKLLNVGVREALRDEEWDCLFLHDVDLLPENDHNLYVCDPRGPLHVAVAMNKFGYSLPYPQYFGGVSAL
TPDQYLKMNGFPNEYWGWGGEDDDIATRVRLAGMKISRPPTSVGHYKMVKHRGDKGNEENPHRIPGRKMG*

Gene Symbol:PPOX
Accession:NM_001365401
Location:INTRON

Gene Symbol:PPOX
Accession:XM_047423581
Location:INTRON

Gene Symbol:PPOX
Accession:XM_011509664
Location:INTRON

Gene Symbol:PPOX
Accession:XM_005245291
Location:INTRON

Gene Symbol:PPOX
Accession:XM_011509678
Location:INTRON

Gene Symbol:PPOX
Accession:XM_047423604
Location:INTRON

Gene Symbol:PPOX
Accession:XM_011509674
Location:INTRON

Gene Symbol:PPOX
Accession:NM_001365400
Location:INTRON

Gene Symbol:PPOX
Accession:XM_011509670
Location:INTRON

Gene Symbol:PPOX
Accession:XM_011509671
Location:INTRON

Gene Symbol:PPOX
Accession:XM_011509672
Location:INTRON

Gene Symbol:PPOX
Accession:XM_011509673
Location:INTRON

Gene Symbol:PPOX
Accession:XM_011509665
Location:INTRON

Gene Symbol:PPOX
Accession:XM_017001566
Location:INTRON

Gene Symbol:PPOX
Accession:NM_001350129
Location:INTRON

Gene Symbol:PPOX
Accession:NM_001365399
Location:INTRON

Gene Symbol:PPOX
Accession:NM_001122764
Location:INTRON

Gene Symbol:PPOX
Accession:XM_011509663
Location:INTRON

Gene Symbol:PPOX
Accession:XM_011509668
Location:INTRON

Gene Symbol:PPOX
Accession:NM_001350128
Location:INTRON

Gene Symbol:PPOX
Accession:XM_006711404
Location:INTRON

Gene Symbol:PPOX
Accession:XM_047423569
Location:INTRON

Gene Symbol:PPOX
Accession:XM_047423592
Location:INTRON

Gene Symbol:PPOX
Accession:XM_005245295
Location:INTRON

Gene Symbol:PPOX
Accession:NM_001350130
Location:INTRON

Gene Symbol:PPOX
Accession:XM_011509667
Location:INTRON

Gene Symbol:PPOX
Accession:XM_024447864
Location:INTRON

Gene Symbol:PPOX
Accession:NM_001350131
Location:INTRON

Gene Symbol:PPOX
Accession:NM_001365398
Location:INTRON

Gene Symbol:PPOX
Accession:NM_000309
Location:INTRON

Gene Symbol:PPOX
Accession:XR_007061329
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004306410 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene B4GALT3 CLINVAR
  PPOX CLINVAR
OMIM 600923 CLINVAR
  604014 CLINVAR