RGD:156033783 Rat Genome Database

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Variant: RGD:156033783 -  Homo sapiens

RGD ID: 156033783
ClinVar ID: CV2236369
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC130006418  TPBGL  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 74,952,932
GRCh38 11 75,241,887
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001195528.2:c.838G>A
NC_000011.10:g.75241887G>A
NC_000011.9:g.74952932G>A
NM_001195528.1:c.838G>A
More... 		10/12/2021 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TPBGL
Accession:NM_001195528
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 280
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPRAGQPGLQGLLLVAAALSQPAAPCPFQCYCFGGPKLLLRCASGAELRQPPRDVPPDARNLTIVGANLTVLRAAAFAG
GDGDGDQAAGVRLPLLSALRLTHNHIEVVEDGAFDGLPSLAALDLSHNPLRALGGGAFRGLPALRSLQLNHALVRGGPAL
LAALDAALAPLAELRLLGLAGNALSRLPPAALRLARLEQLDVRLNALAGLDPDELRALERDGGLPGPRLLLADNPLRCGC
AARPLLAWLRNATERVPDSRRLRCAAPRALLDRPLLDLDRARLRCADSGADARGEEAEAAGPELEASYVFFGLVLALIGL
IFLMVLYLNRRGIQRWMRNLREACRDQMEGYHYRYEQDADPRRAPAPAAPAGSRATSPGSGL*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002758259 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene LOC130006418 CLINVAR
  TPBGL CLINVAR