RGD:156228975 Rat Genome Database

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Variant: RGD:156228975 -  Homo sapiens

RGD ID: 156228975
ClinVar ID: CV2234936
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC129929194  TPRG1L  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 3,541,652
GRCh38 1 3,625,088
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_182752.4:c.16G>T
NC_000001.11:g.3625088G>T
NC_000001.10:g.3541652G>T
NM_182752.3:c.16G>T
More... 		09/09/2021 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:TPRG1L
Accession:NM_182752
Location:EXON
Amino Acid Prediction: D to Y (nonsynonymous)
Amino Acid Position: 6
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLQLRYSVDSAGTSPTAVLAAGEEVGAGGGPGGGRPGAGTPLRQTLWPLSIHDPTRRARVKEYFVFRPGSIEQAVEEIRV
VVRPVEDGEIQGVWLLTEVDHWNNEKERLVLVTEQSLLICKYDFISLQCQQVVRIALNAVDTISYGEFQFPPKSLNKREG
FGIRIQWDKQSRPSFINRWNPWSTNVPYATFTEHPMAGADEKTASLCQLESFKALLIQAVKKAQKESPLPGQANGVLILE
RPLLIETYVGLMSFINNEAKLGYSMTRGKIGF*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004113139 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene LOC129929194 CLINVAR
  TPRG1L CLINVAR
OMIM 611460 CLINVAR