RGD:28875000 Rat Genome Database

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Variant: RGD:28875000 -  Homo sapiens

RGD ID: 28875000
RS ID: rs1713667197
ClinVar ID: CV890368
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PROM1  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 4 15,970,376
GRCh38 4 15,968,753
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001145847.2:c.*640T>A
NM_001145848.2:c.*640T>A
NM_001145849.2:c.*640T>A
NM_001145850.2:c.*640T>A
More... 		01/12/2018 3 prime utr variant uncertain significance Bull's eye macular dystrophy; 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:PROM1
Accession:NM_001145848
Location:3UTRS;EXON

Gene Symbol:PROM1
Accession:NM_001371407
Location:3UTRS;EXON

Gene Symbol:PROM1
Accession:NM_001145851
Location:3UTRS;EXON

Gene Symbol:PROM1
Accession:XM_011513903
Location:3UTRS;EXON

Gene Symbol:PROM1
Accession:NM_001145850
Location:3UTRS;EXON

Gene Symbol:PROM1
Accession:XM_047416376
Location:3UTRS;EXON

Gene Symbol:PROM1
Accession:XM_011513900
Location:3UTRS;EXON

Gene Symbol:PROM1
Accession:NM_001145852
Location:3UTRS;EXON

Gene Symbol:PROM1
Accession:XM_011513895
Location:3UTRS;EXON

Gene Symbol:PROM1
Accession:NM_001371408
Location:3UTRS;EXON

Gene Symbol:PROM1
Accession:XM_047416377
Location:3UTRS;EXON

Gene Symbol:PROM1
Accession:XM_047416373
Location:3UTRS;EXON

Gene Symbol:PROM1
Accession:NM_001145847
Location:3UTRS;EXON

Gene Symbol:PROM1
Accession:NM_001145849
Location:3UTRS;EXON

Gene Symbol:PROM1
Accession:NM_001371406
Location:3UTRS;EXON

Gene Symbol:PROM1
Accession:XM_047416374
Location:3UTRS;EXON

Gene Symbol:PROM1
Accession:XM_047416378
Location:3UTRS;EXON

Gene Symbol:PROM1
Accession:XM_005248196
Location:3UTRS;EXON

Gene Symbol:PROM1
Accession:XM_011513894
Location:3UTRS;EXON

Gene Symbol:PROM1
Accession:XM_047416370
Location:3UTRS;EXON

Gene Symbol:PROM1
Accession:XM_047416372
Location:3UTRS;EXON

Gene Symbol:PROM1
Accession:XM_011513893
Location:3UTRS;EXON

Gene Symbol:PROM1
Accession:XM_047416375
Location:3UTRS;EXON

Gene Symbol:PROM1
Accession:XM_006713974
Location:3UTRS;EXON

Gene Symbol:PROM1
Accession:XM_011513897
Location:3UTRS;EXON

Gene Symbol:PROM1
Accession:XM_005248195
Location:3UTRS;EXON

Gene Symbol:PROM1
Accession:XM_011513902
Location:3UTRS;EXON

Gene Symbol:PROM1
Accession:NM_006017
Location:3UTRS;EXON

Gene Symbol:PROM1
Accession:XM_047416379
Location:3UTRS;EXON

Gene Symbol:PROM1
Accession:XM_017008800
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001147455 CLINVAR
  RCV001147456 CLINVAR
  RCV001147457 CLINVAR
  RCV001148385 CLINVAR
dbSNP (RS) rs1713667197 CLINVAR
MedGen C0035334 CLINVAR
  C1863534 CLINVAR
  C2675210 CLINVAR
  C4749334 CLINVAR
NCBI Gene PROM1 CLINVAR
OMIM 268000 CLINVAR
  603786 CLINVAR
  604365 CLINVAR
  608051 CLINVAR
  612657 CLINVAR
SNOMED CT 232050001 CLINVAR
  28835009 CLINVAR