RGD:329371993 Rat Genome Database

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Variant: RGD:329371993 -  Homo sapiens

RGD ID: 329371993
ClinVar ID: CV2442975
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RGS13  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 192,628,484
GRCh38 1 192,659,354
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_002927.5:c.311C>T
NM_144766.3:c.311C>T
NC_000001.11:g.192659354C>T
NC_000001.10:g.192628484C>T
More...
02/06/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:RGS13
Accession:NM_002927
Location:EXON
Amino Acid Prediction: S to L (nonsynonymous)
Amino Acid Position: 104
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRRNCWICKMCRDESKRPPSNLTLEEVLQWAQSFENLMATKYGPVVYAAYLKMEHSDENIQFWMACETYKKIASRWSRI
SRAKKLYKIYIQPQSPREINIDSLTRETIIRNIQEPTETCFEEAQKIVYMHMERDSYPRFLKSEMYQKLLKTMQSNNSF*

Gene Symbol:RGS13
Accession:NM_144766
Location:EXON
Amino Acid Prediction: S to L (nonsynonymous)
Amino Acid Position: 104
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRRNCWICKMCRDESKRPPSNLTLEEVLQWAQSFENLMATKYGPVVYAAYLKMEHSDENIQFWMACETYKKIASRWSRI
SRAKKLYKIYIQPQSPREINIDSLTRETIIRNIQEPTETCFEEAQKIVYMHMERDSYPRFLKSEMYQKLLKTMQSNNSF*

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004253568 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene RGS13 CLINVAR
OMIM 607190 CLINVAR