RGD:156286080 Rat Genome Database

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Variant: RGD:156286080 -  Homo sapiens

RGD ID: 156286080
ClinVar ID: CV2292051
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PSG11-AS1  PSG5  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 43,679,449
GRCh38 19 43,175,297
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001130014.2:c.882G>T
NM_002781.4:c.882G>T
NC_000019.10:g.43175297C>A
NC_000019.9:g.43679449C>A
More... 		09/07/2022 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:PSG5
Accession:NM_001130014
Location:EXON
Amino Acid Prediction: K to N (nonsynonymous)
Amino Acid Position: 294
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGPLSAPPCTQHITWKGLLLTASLLNFWNLPITAQVTIEALPPKVSEGKDVLLLVHNLPQNLAGYIWYKGQLMDLYHYIT
SYVVDGQINIYGPAYTGRETVYSNASLLIQNVTREDAGSYTLHIIKRGDRTRGVTGYFTFNLYLKLPKPYITINNSKPRE
NKDVLAFTCEPKSENYTYIWWLNGQSLPVSPRVKRPIENRILILPSVTRNETGPYECEIRDRDGGMRSDPVTLNVLYGPD
LPSIYPSFTYYRSGENLYLSCFAESNPPAEYFWTINGKFQQSGQKLSIPQITTNHRGLYTCSVRNSATGKESSKSMTVEV
SAPSGIGRLPLLNPI*

Gene Symbol:PSG5
Accession:NM_002781
Location:EXON
Amino Acid Prediction: K to N (nonsynonymous)
Amino Acid Position: 294
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGPLSAPPCTQHITWKGLLLTASLLNFWNLPITAQVTIEALPPKVSEGKDVLLLVHNLPQNLAGYIWYKGQLMDLYHYIT
SYVVDGQINIYGPAYTGRETVYSNASLLIQNVTREDAGSYTLHIIKRGDRTRGVTGYFTFNLYLKLPKPYITINNSKPRE
NKDVLAFTCEPKSENYTYIWWLNGQSLPVSPRVKRPIENRILILPSVTRNETGPYECEIRDRDGGMRSDPVTLNVLYGPD
LPSIYPSFTYYRSGENLYLSCFAESNPPAEYFWTINGKFQQSGQKLSIPQITTNHRGLYTCSVRNSATGKESSKSMTVEV
SAPSGIGRLPLLNPI*

Gene Symbol:PSG5
Accession:XM_017027003
Location:EXON
Amino Acid Prediction: K to N (nonsynonymous)
Amino Acid Position: 294
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGPLSAPPCTQHITWKGLLLTASLLNFWNLPITAQVTIEALPPKVSEGKDVLLLVHNLPQNLAGYIWYKGQLMDLYHYIT
SYVVDGQINIYGPAYTGRETVYSNASLLIQNVTREDAGSYTLHIIKRGDRTRGVTGYFTFNLYLKLPKPYITINNSKPRE
NKDVLAFTCEPKSENYTYIWWLNGQSLPVSPRVKRPIENRILILPSVTRNETGPYECEIRDRDGGMRSDPVTLNVLYGPD
LPSIYPSFTYYRSGENLYLSCFAESNPPAEYFWTINGKFQQSGQKLSIPQITTNHRGLYTCSVRNSATGKESSKSMTVEV
SAPSGIGRLPLLNPI*

Gene Symbol:PSG5
Accession:XM_011527132
Location:INTRON

Gene Symbol:LOC107985349
Accession:XR_007067262
Location:INTRON;NON-CODING

Gene Symbol:LOC107985349
Accession:XR_001754099
Location:INTRON;NON-CODING

Gene Symbol:LOC107985349
Accession:XR_001754099
Location:INTRON;NON-CODING

Gene Symbol:LOC107985349
Accession:XR_001754100
Location:INTRON;NON-CODING

Gene Symbol:LOC107985349
Accession:XR_001754100
Location:INTRON;NON-CODING

Gene Symbol:LOC107985349
Accession:XR_007067262
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004160328 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene PSG11-AS1 CLINVAR
  PSG5 CLINVAR
OMIM 176394 CLINVAR