RGD:38598835 Rat Genome Database

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Variant: RGD:38598835 -  Homo sapiens

RGD ID: 38598835
RS ID: rs2067146202
ClinVar ID: CV963405
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RPGR  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 38,145,387
GRCh38 X 38,286,134
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+4825G>A
NM_001367249.1:c.1569+4825G>A
NM_001367250.1:c.1569+4825G>A
NM_001367247.1:c.1572+4825G>A
More... 		05/29/2022 intron variant pathogenic|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


Variant Details
Variant Transcripts
Gene Symbol:RPGR
Accession:NM_001034853
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 955
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MREPEELMPDSGAVFTFGKSKFAENNPGKFWFKNDVPVHLSCGDEHSAVVTGNNKLYMFGSNNWGQLGLGSKSAISKPTC
VKALKPEKVKLAACGRNHTLVSTEGGNVYATGGNNEGQLGLGDTEERNTFHVISFFTSEHKIKQLSAGSNTSAALTEDGR
LFMWGDNSEGQIGLKNVSNVCVPQQVTIGKPVSWISCGYYHSAFVTTDGELYVFGEPENGKLGLPNQLLGNHRTPQLVSE
IPEKVIQVACGGEHTVVLTENAVYTFGLGQFGQLGLGTFLFETSEPKVIENIRDQTISYISCGENHTALITDIGLMYTFG
DGRHGKLGLGLENFTNHFIPTLCSNFLRFIVKLVACGGCHMVVFAAPHRGVAKEIEFDEINDTCLSVATFLPYSSLTSGN
VLQRTLSARMRRRERERSPDSFSMRRTLPPIEGTLGLSACFLPNSVFPRCSERNLQESVLSEQDLMQPEEPDYLLDEMTK
EAEIDNSSTVESLGETTDILNMTHIMSLNSNEKSLKLSPVQKQKKQQTIGELTQDTALTENDDSDEYEEMSEMKEGKACK
QHVSQGIFMTQPATTIEAFSDEEVEIPEEKEGAEDSKGNGIEEQEVEANEENVKVHGGRKEKTEILSDDLTDKAEVSEGK
AKSVGEAEDGPEGRGDGTCEEGSSGAEHWQDEEREKGEKDKGRGEMERPGEGEKELAEKEEWKKRDGEEQEQKEREQGHQ
KERNQEMEEGGEEEHGEGEEEEGDREEEEEKEGEGKEEGEGEEVEGEREKEEGERKKEERAGKEEKGEEEGDQGEGEEEE
TEGRGEEKEEGGEVEGGEVEEGKGEREEEEEEGEGEEEEGEGEEEEGEGEEEEGEGKGEEEGEEGEGEEEGEEGEGEGEE
EEGEGEGEEEGEGEGEEEEGEGEGEEEGEGEGEEEEGEGKGEEEGEEGEGEGEEEEGEGEGEDGEGEGEEEEGE*EGEEE
EGEGEGEEEGEGEGEEGEGEGEEEEGEGEGEEEEGEEEGEEEGEGEEEGEGEGEEEEEGEVEGEVEGEEGEGEGEEEEGE
EEGEEREKEGEGEENRRNREEEEEEEGKYQETGEEENERQDGEEYKKVSKIKGSVKYGKHKTYQKKSVTNTQGNGKEQRS
KMPVQSKRLLKNGPSGSKKFWNNVLPHYLELK*

Gene Symbol:RPGR
Accession:NM_000328
Location:INTRON

Gene Symbol:RPGR
Accession:NM_001367251
Location:INTRON

Gene Symbol:RPGR
Accession:NM_001367246
Location:INTRON

Gene Symbol:RPGR
Accession:NM_001367250
Location:INTRON

Gene Symbol:RPGR
Accession:XM_047442329
Location:INTRON

Gene Symbol:RPGR
Accession:NM_001367249
Location:INTRON

Gene Symbol:RPGR
Accession:NM_001367248
Location:INTRON

Gene Symbol:RPGR
Accession:NM_001367245
Location:INTRON

Gene Symbol:RPGR
Accession:XM_047442330
Location:INTRON

Gene Symbol:RPGR
Accession:XM_047442331
Location:INTRON

Gene Symbol:RPGR
Accession:NM_001367247
Location:INTRON

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

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

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

Gene Symbol:RPGR
Accession:NR_159808
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:XR_007068198
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001251530 CLINVAR
  RCV002570455 CLINVAR
dbSNP (RS) rs2067146202 CLINVAR
MedGen C0008780 CLINVAR
  C1845667 CLINVAR
NCBI Gene RPGR CLINVAR
OMIM 300029 CLINVAR
  312610 CLINVAR