RGD:401879394 Rat Genome Database

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Variant: RGD:401879394 -  Homo sapiens

RGD ID: 401879394
ClinVar ID: CV2791570
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC124900163  PCGF3  PCGF3-AS1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 4 755,104
GRCh38 4 761,316
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001395250.1:c.398G>A
NM_001395251.1:c.398G>A
NM_001317836.3:c.500G>A
NM_001395245.1:c.500G>A
More... 		08/04/2023 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LOC124900163
Accession:XM_047416474
Location:5UTRS;EXON

Gene Symbol:LOC124900163
Accession:XM_047416473
Location:5UTRS;EXON

Gene Symbol:LOC124900163
Accession:XM_047416472
Location:5UTRS;EXON

Gene Symbol:PCGF3
Accession:XM_047449500
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 133
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTVCRSCLVKYLEENNTCPTCRIVIHQSHPLQYIGHDRTMQDIVYKLVPGLQEAEMRKQREFYHKLGMEVPGDIKGETCS
AKQHLDSHRNGETKADDSSNKEAAEEKPEEDNDYHRSDEQVSICLECNSSKLHGLKRKWIRCSAQATVLHLKKFIAKKLN
LSSFNELDILCNEEILGKDHTLKFVVVTRWRFKKAPLLLHYRPKMDLL*

Gene Symbol:PCGF3
Accession:NM_001395245
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 167
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLTRKIKLWDINAHITCRLCSGYLIDATTVTECLHTFCRSCLVKYLEENNTCPTCRIVIHQSHPLQYIGHDRTMQDIVYK
LVPGLQEAEMRKQREFYHKLGMEVPGDIKGETCSAKQHLDSHRNGETKADDSSNKEAAEEKPEEDNDYHRSDEQVSICLE
CNSSKLHGLKRKWIRCSAQATVLHLKKFIAKKLNLSSFNELDILCNEEILGKDHTLKFVVVTRWRFKKAPLLLHYRPKMD
LL*

Gene Symbol:PCGF3
Accession:NM_001395250
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 133
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTVCRSCLVKYLEENNTCPTCRIVIHQSHPLQYIGHDRTMQDIVYKLVPGLQEAEMRKQREFYHKLGMEVPGDIKGETCS
AKQHLDSHRNGETKADDSSNKEAAEEKPEEDNDYHRSDEQVSICLECNSSKLHGLKRKWIRCSAQATVLHLKKFIAKKLN
LSSFNELDILCNEEILGKDHTLKFVVVTRWRFKKAPLLLHYRPKMDLL*

Gene Symbol:PCGF3
Accession:NM_001395251
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 133
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTVCRSCLVKYLEENNTCPTCRIVIHQSHPLQYIGHDRTMQDIVYKLVPGLQEAEMRKQREFYHKLGMEVPGDIKGETCS
AKQHLDSHRNGETKADDSSNKEAAEEKPEEDNDYHRSDEQVSICLECNSSKLHGLKRKWIRCSAQATVLHLKKFIAKKLN
LSSFNELDILCNEEILGKDHTLKFVVVTRWRFKKAPLLLHYRPKMDLL*

Gene Symbol:PCGF3
Accession:NM_006315
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 167
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLTRKIKLWDINAHITCRLCSGYLIDATTVTECLHTFCRSCLVKYLEENNTCPTCRIVIHQSHPLQYIGHDRTMQDIVYK
LVPGLQEAEMRKQREFYHKLGMEVPGDIKGETCSAKQHLDSHRNGETKADDSSNKEAAEEKPEEDNDYHRSDEQVSICLE
CNSSKLHGLKRKWIRCSAQATVLHLKKFIAKKLNLSSFNELDILCNEEILGKDHTLKFVVVTRWRFKKAPLLLHYRPKMD
LL*

Gene Symbol:PCGF3
Accession:NM_001395247
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 167
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLTRKIKLWDINAHITCRLCSGYLIDATTVTECLHTFCRSCLVKYLEENNTCPTCRIVIHQSHPLQYIGHDRTMQDIVYK
LVPGLQEAEMRKQREFYHKLGMEVPGDIKGETCSAKQHLDSHRNGETKADDSSNKEAAEEKPEEDNDYHRSDEQVSICLE
CNSSKLHGLKRKWIRCSAQATVLHLKKFIAKKLNLSSFNELDILCNEEILGKDHTLKFVVVTRWRFKKAPLLLHYRPKMD
LL*

Gene Symbol:PCGF3
Accession:NM_001317836
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 167
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLTRKIKLWDINAHITCRLCSGYLIDATTVTECLHTFCRSCLVKYLEENNTCPTCRIVIHQSHPLQYIGHDRTMQDIVYK
LVPGLQEAEMRKQREFYHKLGMEVPGDIKGETCSAKQHLDSHRNGETKADDSSNKEAAEEKPEEDNDYHRSDEQVSICLE
CNSSKLHGLKRKWIRCSAQATVLHLKKFIAKKLNLSSFNELDILCNEEILGKDHTLKFVVVTRWRFKKAPLLLHYRPKMD
LL*

Gene Symbol:PCGF3
Accession:NM_001395246
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 167
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLTRKIKLWDINAHITCRLCSGYLIDATTVTECLHTFCRSCLVKYLEENNTCPTCRIVIHQSHPLQYIGHDRTMQDIVYK
LVPGLQEAEMRKQREFYHKLGMEVPGDIKGETCSAKQHLDSHRNGETKADDSSNKEAAEEKPEEDNDYHRSDEQVSICLE
CNSSKLHGLKRKWIRCSAQATVLHLKKFIAKKLNLSSFNELDILCNEEILGKDHTLKFVVVTRWRFKKAPLLLHYRPKMD
LL*

Gene Symbol:PCGF3
Accession:NM_001395249
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 167
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLTRKIKLWDINAHITCRLCSGYLIDATTVTECLHTFCRSCLVKYLEENNTCPTCRIVIHQSHPLQYIGHDRTMQDIVYK
LVPGLQEAEMRKQREFYHKLGMEVPGDIKGETCSAKQHLDSHRNGETKADDSSNKEAAEEKPEEDNDYHRSDEQVSICLE
CNSSKLHGLKRKWIRCSAQATVLHLKKFIAKKLNLSSFNELDILCNEEILGKDHTLKFVVVTRWRFKKAPLLLHYRPKMD
LL*

Gene Symbol:PCGF3
Accession:NM_001395248
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 167
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLTRKIKLWDINAHITCRLCSGYLIDATTVTECLHTFCRSCLVKYLEENNTCPTCRIVIHQSHPLQYIGHDRTMQDIVYK
LVPGLQEAEMRKQREFYHKLGMEVPGDIKGETCSAKQHLDSHRNGETKADDSSNKEAAEEKPEEDNDYHRSDEQVSICLE
CNSSKLHGLKRKWIRCSAQATVLHLKKFIAKKLNLSSFNELDILCNEEILGKDHTLKFVVVTRWRFKKAPLLLHYRPKMD
LL*

Gene Symbol:PCGF3-AS1
Accession:NR_171661
Location:EXON;NON-CODING

Gene Symbol:PCGF3-AS1
Accession:NR_036512
Location:INTRON;NON-CODING

Gene Symbol:PCGF3-AS1
Accession:NR_036511
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003384645 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene PCGF3 CLINVAR
  PCGF3-AS1 CLINVAR
OMIM 617543 CLINVAR