RGD:26910526 Rat Genome Database

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Variant: RGD:26910526 -  Homo sapiens

RGD ID: 26910526
RS ID: rs2067191154
ClinVar ID: CV857032
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RPGR  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 38,146,094
GRCh38 X 38,286,841
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001367251.1:c.1386+4118C>T
NM_001367249.1:c.1569+4118C>T
NM_001367250.1:c.1569+4118C>T
NM_001367247.1:c.1572+4118C>T
More... 		07/16/2018 intron variant likely pathogenic Choroidoretinal degeneration with retinal reflex in heterozygous women; Cone-rod degeneration X-linked; Retinitis pigmentosa 15
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: Q to * (nonsynonymous)
Amino Acid Position: 720
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MREPEELMPDSGAVFTFGKSKFAENNPGKFWFKNDVPVHLSCGDEHSAVVTGNNKLYMFGSNNWGQLGLGSKSAISKPTC
VKALKPEKVKLAACGRNHTLVSTEGGNVYATGGNNEGQLGLGDTEERNTFHVISFFTSEHKIKQLSAGSNTSAALTEDGR
LFMWGDNSEGQIGLKNVSNVCVPQQVTIGKPVSWISCGYYHSAFVTTDGELYVFGEPENGKLGLPNQLLGNHRTPQLVSE
IPEKVIQVACGGEHTVVLTENAVYTFGLGQFGQLGLGTFLFETSEPKVIENIRDQTISYISCGENHTALITDIGLMYTFG
DGRHGKLGLGLENFTNHFIPTLCSNFLRFIVKLVACGGCHMVVFAAPHRGVAKEIEFDEINDTCLSVATFLPYSSLTSGN
VLQRTLSARMRRRERERSPDSFSMRRTLPPIEGTLGLSACFLPNSVFPRCSERNLQESVLSEQDLMQPEEPDYLLDEMTK
EAEIDNSSTVESLGETTDILNMTHIMSLNSNEKSLKLSPVQKQKKQQTIGELTQDTALTENDDSDEYEEMSEMKEGKACK
QHVSQGIFMTQPATTIEAFSDEEVEIPEEKEGAEDSKGNGIEEQEVEANEENVKVHGGRKEKTEILSDDLTDKAEVSEGK
AKSVGEAEDGPEGRGDGTCEEGSSGAEHWQDEEREKGEKDKGRGEMERPGEGEKELAEKEEWKKRDGEEQEQKEREQGH*
KERNQEMEEGGEEEHGEGEEEEGDREEEEEKEGEGKEEGEGEEVEGEREKEEGERKKEERAGKEEKGEEEGDQGEGEEEE
TEGRGEEKEEGGEVEGGEVEEGKGEREEEEEEGEGEEEEGEGEEEEGEGEEEEGEGKGEEEGEEGEGEEEGEEGEGEGEE
EEGEGEGEEEGEGEGEEEEGEGEGEEEGEGEGEEEEGEGKGEEEGEEGEGEGEEEEGEGEGEDGEGEGEEEEGEWEGEEE
EGEGEGEEEGEGEGEEGEGEGEEEEGEGEGEEEEGEEEGEEEGEGEEEGEGEGEEEEEGEVEGEVEGEEGEGEGEEEEGE
EEGEEREKEGEGEENRRNREEEEEEEGKYQETGEEENERQDGEEYKKVSKIKGSVKYGKHKTYQKKSVTNTQGNGKEQRS
KMPVQSKRLLKNGPSGSKKFWNNVLPHYLELK*

Gene Symbol:RPGR
Accession:NM_001367246
Location:INTRON

Gene Symbol:RPGR
Accession:NM_000328
Location:INTRON

Gene Symbol:RPGR
Accession:NM_001367245
Location:INTRON

Gene Symbol:RPGR
Accession:NM_001367251
Location:INTRON

Gene Symbol:RPGR
Accession:NM_001367250
Location:INTRON

Gene Symbol:RPGR
Accession:NM_001367249
Location:INTRON

Gene Symbol:RPGR
Accession:XM_047442329
Location:INTRON

Gene Symbol:RPGR
Accession:NM_001367247
Location:INTRON

Gene Symbol:RPGR
Accession:XM_047442330
Location:INTRON

Gene Symbol:RPGR
Accession:NM_001367248
Location:INTRON

Gene Symbol:RPGR
Accession:XM_047442331
Location:INTRON

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

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

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

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

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

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001075090 CLINVAR
  RCV001251581 CLINVAR
dbSNP (RS) rs2067191154 CLINVAR
MedGen C0854723 CLINVAR
  C1845667 CLINVAR
NCBI Gene RPGR CLINVAR
OMIM 300029 CLINVAR
  312610 CLINVAR
SNOMED CT 314407005 CLINVAR