RGD:14691577 Rat Genome Database

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Variant: RGD:14691577 -  Homo sapiens

RGD ID: 14691577
RS ID: rs1565538350
ClinVar ID: CV615918
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TPI1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 6,979,238
GRCh38 12 6,870,074
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000365.5:c.569G>A
NP_000356.1:p.Arg190Gln
NG_011948.1:g.7655G>A
NC_000012.12:g.6870074G>A
More... 		05/10/2023 missense variant pathogenic|uncertain significance Triose phosphate-isomerase deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TPI1
Accession:NM_001258026
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 108
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MIKDCGATWVVLGHSERRHVFGESDELIGQKVAHALAEGLGVIACIGEKLDEREAGITEKVVFEQTKVIADNVKDWSKVV
LAYEPVWAIGTGKTATPQQAQEVHEKLQGWLKSNVSDAVAQSTRIIYGGSVTGATCKELASQPDVDGFLVGGASLKPEFV
DIINAKQ*

Gene Symbol:TPI1
Accession:NM_001159287
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 227
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEDGEEAEFHFAALYISGQWPRLRADTDLQRLGSSAMAPSRKFFVGGNWKMNGRKQSLGELIGTLNAAKVPADTEVVCA
PPTAYIDFARQKLDPKIAVAAQNCYKVTNGAFTGEISPGMIKDCGATWVVLGHSERRHVFGESDELIGQKVAHALAEGLG
VIACIGEKLDEREAGITEKVVFEQTKVIADNVKDWSKVVLAYEPVWAIGTGKTATPQQAQEVHEKLQGWLKSNVSDAVAQ
STRIIYGGSVTGATCKELASQPDVDGFLVGGASLKPEFVDIINAKQ*

Gene Symbol:TPI1
Accession:NM_000365
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 190
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPSRKFFVGGNWKMNGRKQSLGELIGTLNAAKVPADTEVVCAPPTAYIDFARQKLDPKIAVAAQNCYKVTNGAFTGEIS
PGMIKDCGATWVVLGHSERRHVFGESDELIGQKVAHALAEGLGVIACIGEKLDEREAGITEKVVFEQTKVIADNVKDWSK
VVLAYEPVWAIGTGKTATPQQAQEVHEKLQGWLKSNVSDAVAQSTRIIYGGSVTGATCKELASQPDVDGFLVGGASLKPE
FVDIINAKQ*
Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000770936 CLINVAR
dbSNP (RS) rs1565538350 CLINVAR
MedGen C1860808 CLINVAR
NCBI Gene TPI1 CLINVAR
OMIM 190450 CLINVAR
  615512 CLINVAR