RGD:401903183 Rat Genome Database

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Variant: RGD:401903183 -  Homo sapiens

RGD ID: 401903183
ClinVar ID: CV2797716
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TSR2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 54,466,871
GRCh38 X 54,440,438
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001346790.2:c.-371A>G
NM_001346792.2:c.-178A>G
NM_001346791.2:c.-380A>G
NM_001346789.2:c.17A>G
More... 		10/05/2022 5 prime utr variant uncertain significance

Variant Details
Variant Transcripts
Gene Symbol:TSR2
Accession:NM_001346791
Location:5UTRS;EXON

Gene Symbol:TSR2
Accession:NM_001346790
Location:5UTRS;EXON

Gene Symbol:TSR2
Accession:NM_001346792
Location:5UTRS;EXON

Gene Symbol:TSR2
Accession:NM_058163
Location:EXON
Amino Acid Prediction: E to G (nonsynonymous)
Amino Acid Position: 6
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGAAGDARALFRAGVCAALEAWPALQIAVENGFGGVHSQEKAKWLGGAVEDYFMRNADLELDEVEDFLGELLTNEFDTV
VEDGSLPQVSQQLQTMFHHFQRGDGAALREMASCITQRKCKVTATALKTARETDEDEDDVDSVEEMEVTATNDGAATDGV
CPQPEPSDPDAQTIKEEDIVEDGWTIVRRKK*

Gene Symbol:TSR2
Accession:NM_001346789
Location:EXON
Amino Acid Prediction: E to G (nonsynonymous)
Amino Acid Position: 6
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGAAGDARALFRAGVCAALEAWPALQIAVENGFGGVHSQEKAKWLGGAVEDYFMRNADLELDEVEDFLGELLTNEFDTV
VEDGSLPQQLQTMFHHFQRGDGAALREMASCITQRKCKVTATALKTARETDEDEDDVDSVEEMEVTATNDGAATDGVCPQ
PEPSDPDAQTIKEEDIVEDGWTIVRRKK*
Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003419190 CLINVAR
NCBI Gene TSR2 CLINVAR
OMIM 300945 CLINVAR