RGD:156007188 Rat Genome Database

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Variant: RGD:156007188 -  Homo sapiens

RGD ID: 156007188
ClinVar ID: CV2394330
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TPRG1L  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 3,545,102
GRCh38 1 3,628,538
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.754A>T
NC_000001.11:g.3628538A>T
NC_000001.10:g.3545102A>T
NM_182752.3:c.754A>T
More... 		12/13/2022 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:TPRG1L
Accession:NM_182752
Location:EXON
Amino Acid Prediction: M to L (nonsynonymous)
Amino Acid Position: 252
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLQLRDSVDSAGTSPTAVLAAGEEVGAGGGPGGGRPGAGTPLRQTLWPLSIHDPTRRARVKEYFVFRPGSIEQAVEEIRV
VVRPVEDGEIQGVWLLTEVDHWNNEKERLVLVTEQSLLICKYDFISLQCQQVVRIALNAVDTISYGEFQFPPKSLNKREG
FGIRIQWDKQSRPSFINRWNPWSTNVPYATFTEHPMAGADEKTASLCQLESFKALLIQAVKKAQKESPLPGQANGVLILE
RPLLIETYVGLLSFINNEAKLGYSMTRGKIGF*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004238550 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene TPRG1L CLINVAR
OMIM 611460 CLINVAR