RGD:14698492 Rat Genome Database

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Variant: RGD:14698492 -  Homo sapiens

RGD ID: 14698492
RS ID: rs1556318633
ClinVar ID: CV623916
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RP2  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 46,713,160
GRCh38 X 46,853,725
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009107.1:g.21814C>G
NC_000023.11:g.46853725C>G
NC_000023.10:g.46713160C>G
NM_006915.3:c.352C>G
More... 		04/01/2018 missense variant likely pathogenic Tapetoretinal degeneration
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:RP2
Accession:NM_006915
Location:EXON
Amino Acid Prediction: R to G (nonsynonymous)
Amino Acid Position: 118
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGCFFSKRRKADKESRPENEEERPKQYSWDQREKVDPKDYMFSGLKDETVGRLPGTVAGQQFLIQDCENCNIYIFDHSAT
VTIDDCTNCIIFLGPVKGSVFFRNCRDCKCTLACQQFGVRDCRKLEVFLCCATQPIIESSSNIKFGCFQWYYPELAFQFK
DAGLSIFNNTWSNIHDFTPVSGELNWSLLPEDAVVQDYVPIPTTEELKAVRVSTEANRSIVPISRGQRQKSSDESCLVVL
FAGDYTIANARKLIDEMVGKGFFLVQTKEVSMKAEDAQRVFREKAPDFLPLLNKGPVIALEFNGDGAVEVCQLIVNEIFN
GTKMFVSESKETASGDVDSFYNFADIQMGI*
Variant Samples
Additional References at PubMed
PMID:30718709  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000787700 CLINVAR
dbSNP (RS) rs1556318633 CLINVAR
MedGen C0035334 CLINVAR
NCBI Gene RP2 CLINVAR
OMIM 268000 CLINVAR
  300757 CLINVAR
SNOMED CT 28835009 CLINVAR