RGD:8645254 Rat Genome Database

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Variant: RGD:8645254 -  Homo sapiens

RGD ID: 8645254
RS ID: rs62638626
ClinVar ID: CV104662
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC130068098  RPGR  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 38,186,588
GRCh38 X 38,327,335
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.5201G>A
NC_000023.11:g.38327335C>T
NC_000023.10:g.38186588C>T
NM_000328.3:c.28+5G>A
More...
01/14/2024 intron|intron variant pathogenic|likely pathogenic|not provided none provided
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_000328
Location:INTRON

Gene Symbol:RPGR
Accession:NM_001034853
Location:INTRON

Gene Symbol:RPGR
Accession:NM_001367249
Location:INTRON

Gene Symbol:RPGR
Accession:NM_001367250
Location:INTRON

Gene Symbol:RPGR
Accession:NM_001367245
Location:INTRON

Gene Symbol:RPGR
Accession:NM_001367251
Location:INTRON

Gene Symbol:RPGR
Accession:NM_001367246
Location:INTRON

Gene Symbol:RPGR
Accession:NM_001367247
Location:INTRON

Gene Symbol:RPGR
Accession:NM_001367248
Location:INTRON

Gene Symbol:RPGR
Accession:XM_047442330
Location:INTRON

Gene Symbol:RPGR
Accession:XM_047442329
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_159807
Location:INTRON;NON-CODING

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

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

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

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

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

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:10480356   PMID:17576681   PMID:28492532   PMID:30924848   PMID:31213501  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000085091 CLINVAR
  RCV001074095 CLINVAR
  RCV002513918 CLINVAR
dbSNP (RS) rs62638626 CLINVAR
MedGen C0008780 CLINVAR
  C0854723 CLINVAR
  C3661900 CLINVAR
NCBI Gene LOC130068098 CLINVAR
  RPGR CLINVAR
OMIM 312610 CLINVAR
SNOMED CT 314407005 CLINVAR