RGD:13518654 Rat Genome Database

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Variant: RGD:13518654 -  Homo sapiens

RGD ID: 13518654
RS ID: rs1555961677
ClinVar ID: CV486477
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RPGR  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 38,145,647
GRCh38 X 38,286,394
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009553.1:g.46142G>T
NC_000023.10:g.38145647C>A
NP_001030025.1:p.Glu869Ter
NM_000328.3:c.1905+700G>T
More... 		01/09/2020 intron variant pathogenic|likely pathogenic none provided; 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:RPGR
Accession:NM_001034853
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 869
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MREPEELMPDSGAVFTFGKSKFAENNPGKFWFKNDVPVHLSCGDEHSAVVTGNNKLYMFGSNNWGQLGLGSKSAISKPTC
VKALKPEKVKLAACGRNHTLVSTEGGNVYATGGNNEGQLGLGDTEERNTFHVISFFTSEHKIKQLSAGSNTSAALTEDGR
LFMWGDNSEGQIGLKNVSNVCVPQQVTIGKPVSWISCGYYHSAFVTTDGELYVFGEPENGKLGLPNQLLGNHRTPQLVSE
IPEKVIQVACGGEHTVVLTENAVYTFGLGQFGQLGLGTFLFETSEPKVIENIRDQTISYISCGENHTALITDIGLMYTFG
DGRHGKLGLGLENFTNHFIPTLCSNFLRFIVKLVACGGCHMVVFAAPHRGVAKEIEFDEINDTCLSVATFLPYSSLTSGN
VLQRTLSARMRRRERERSPDSFSMRRTLPPIEGTLGLSACFLPNSVFPRCSERNLQESVLSEQDLMQPEEPDYLLDEMTK
EAEIDNSSTVESLGETTDILNMTHIMSLNSNEKSLKLSPVQKQKKQQTIGELTQDTALTENDDSDEYEEMSEMKEGKACK
QHVSQGIFMTQPATTIEAFSDEEVEIPEEKEGAEDSKGNGIEEQEVEANEENVKVHGGRKEKTEILSDDLTDKAEVSEGK
AKSVGEAEDGPEGRGDGTCEEGSSGAEHWQDEEREKGEKDKGRGEMERPGEGEKELAEKEEWKKRDGEEQEQKEREQGHQ
KERNQEMEEGGEEEHGEGEEEEGDREEEEEKEGEGKEEGEGEEVEGEREKEEGERKKEERAGKEEKGEEEGDQGEGEEEE
TEGRGEEKEEGGEVEGGEVEEGKGEREEEEEEGEGEEEEGEGEEEEGEGEEEEGEGKGEEEGEEGEGE*EGEEGEGEGEE
EEGEGEGEEEGEGEGEEEEGEGEGEEEGEGEGEEEEGEGKGEEEGEEGEGEGEEEEGEGEGEDGEGEGEEEEGEWEGEEE
EGEGEGEEEGEGEGEEGEGEGEEEEGEGEGEEEEGEEEGEEEGEGEEEGEGEGEEEEEGEVEGEVEGEEGEGEGEEEEGE
EEGEEREKEGEGEENRRNREEEEEEEGKYQETGEEENERQDGEEYKKVSKIKGSVKYGKHKTYQKKSVTNTQGNGKEQRS
KMPVQSKRLLKNGPSGSKKFWNNVLPHYLELK*

Gene Symbol:RPGR
Accession:XM_047442330
Location:INTRON

Gene Symbol:RPGR
Accession:NM_001367248
Location:INTRON

Gene Symbol:RPGR
Accession:NM_001367249
Location:INTRON

Gene Symbol:RPGR
Accession:NM_001367251
Location:INTRON

Gene Symbol:RPGR
Accession:NM_001367250
Location:INTRON

Gene Symbol:RPGR
Accession:XM_047442329
Location:INTRON

Gene Symbol:RPGR
Accession:XM_047442331
Location:INTRON

Gene Symbol:RPGR
Accession:NM_001367246
Location:INTRON

Gene Symbol:RPGR
Accession:NM_001367247
Location:INTRON

Gene Symbol:RPGR
Accession:NM_001367245
Location:INTRON

Gene Symbol:RPGR
Accession:NM_000328
Location:INTRON

Gene Symbol:RPGR
Accession:NR_159807
Location:INTRON;NON-CODING

Gene Symbol:RPGR
Accession:NR_159805
Location:INTRON;NON-CODING

Gene Symbol:RPGR
Accession:NR_159803
Location:INTRON;NON-CODING

Gene Symbol:RPGR
Accession:NR_159806
Location:INTRON;NON-CODING

Gene Symbol:RPGR
Accession:XR_007068198
Location:INTRON;NON-CODING

Gene Symbol:RPGR
Accession:NR_159804
Location:INTRON;NON-CODING

Gene Symbol:RPGR
Accession:NR_159808
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:22264887   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000584983 CLINVAR
  RCV001199544 CLINVAR
  RCV002530868 CLINVAR
dbSNP (RS) rs1555961677 CLINVAR
MedGen C0008780 CLINVAR
  C0035334 CLINVAR
  C3661900 CLINVAR
NCBI Gene RPGR CLINVAR
OMIM 268000 CLINVAR
  312610 CLINVAR
SNOMED CT 28835009 CLINVAR