RGD:155998819 Rat Genome Database

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Variant: RGD:155998819 -  Homo sapiens

RGD ID: 155998819
ClinVar ID: CV2396308
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PRRG3  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 150,869,191
GRCh38 X 151,700,719
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001372165.1:c.274A>G
NM_001372163.1:c.382A>G
NM_024082.4:c.382A>G
NG_016589.1:g.10462A>G
More...
06/24/2022 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PRRG3
Accession:NM_024082
Location:EXON
Amino Acid Prediction: T to A (nonsynonymous)
Amino Acid Position: 128
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVFLEAKDAHSVLKRFPRANEFLEELRQGTIERECMEEICSYEEVKEVFENKEKTMEFWKGYPNAVYSVRDPSQSSDAM
YVVVPLLGVALLIVIALFIIWRCQLQKATRHHPSYAQNRYLASRAGHALPRVMVYRGTVHSQGEPSGHREAANSPQVVLG
PSRGGRTTVRLESTLYLPELSLSRLSSTTPPPSYEEVTAPQESSSEEASVSYSDPPPKYEEIVAANPGADK*

Gene Symbol:PRRG3
Accession:NM_001372165
Location:EXON
Amino Acid Prediction: T to A (nonsynonymous)
Amino Acid Position: 92
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEICSYEEVKEVFENKEKTMEFWKGYPNAVYSVRDPSQSSDAMYVVVPLLGVALLIVIALFIIWRCQLQKATRHHPSYA
QNRYLASRAGHALPRVMVYRGTVHSQGEPSGHREAANSPQVVLGPSRGGRTTVRLESTLYLPELSLSRLSSTTPPPSYEE
VTAPQESSSEEASVSYSDPPPKYEEIVAANPGADK*

Gene Symbol:PRRG3
Accession:NM_001372163
Location:EXON
Amino Acid Prediction: T to A (nonsynonymous)
Amino Acid Position: 128
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVFLEAKDAHSVLKRFPRANEFLEELRQGTIERECMEEICSYEEVKEVFENKEKTMEFWKGYPNAVYSVRDPSQSSDAM
YVVVPLLGVALLIVIALFIIWRCQLQKATRHHPSYAQNRYLASRAGHALPRVMVYRGTVHSQGEPSGHREAANSPQVVLG
PSRGGRTTVRLESTLYLPELSLSRLSSTTPPPSYEEVTAPQESSSEEASVSYSDPPPKYEEIVAANPGADK*

Gene Symbol:PRRG3
Accession:NR_033262
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002779204 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene PRRG3 CLINVAR
OMIM 300685 CLINVAR