rs375813885 Rat Genome Database

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Variant: rs375813885 -  Homo sapiens

RGD ID: 26910818
RS ID: rs375813885
ClinVar ID: CV857193
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PROM1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 4 15,981,529
GRCh38 4 15,979,906
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001145852.2:c.2462+516A>G
NM_001371407.1:c.2462+516A>G
NM_001371408.1:c.2462+516A>G
NM_001145847.2:c.2463-2A>G
More... 		10/05/2023 intron variant pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance Bull's eye macular dystrophy; Inherited retinal dystrophy; 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:PROM1
Accession:XM_011513903
Location:INTRON

Gene Symbol:PROM1
Accession:NM_006017
Location:INTRON

Gene Symbol:PROM1
Accession:NM_001371407
Location:INTRON

Gene Symbol:PROM1
Accession:XM_017008800
Location:INTRON

Gene Symbol:PROM1
Accession:NM_001371406
Location:INTRON

Gene Symbol:PROM1
Accession:NM_001145851
Location:INTRON

Gene Symbol:PROM1
Accession:XM_005248196
Location:INTRON

Gene Symbol:PROM1
Accession:XM_011513895
Location:INTRON

Gene Symbol:PROM1
Accession:XM_047416376
Location:INTRON

Gene Symbol:PROM1
Accession:XM_047416373
Location:INTRON

Gene Symbol:PROM1
Accession:XM_006713974
Location:INTRON

Gene Symbol:PROM1
Accession:XM_047416379
Location:INTRON

Gene Symbol:PROM1
Accession:XM_047416370
Location:INTRON

Gene Symbol:PROM1
Accession:XM_011513893
Location:INTRON

Gene Symbol:PROM1
Accession:XM_011513894
Location:INTRON

Gene Symbol:PROM1
Accession:XM_011513902
Location:INTRON

Gene Symbol:PROM1
Accession:XM_011513897
Location:INTRON

Gene Symbol:PROM1
Accession:XM_047416378
Location:INTRON

Gene Symbol:PROM1
Accession:NM_001145848
Location:INTRON

Gene Symbol:PROM1
Accession:NM_001145852
Location:INTRON

Gene Symbol:PROM1
Accession:NM_001371408
Location:INTRON

Gene Symbol:PROM1
Accession:NM_001145850
Location:INTRON

Gene Symbol:PROM1
Accession:NM_001145847
Location:INTRON

Gene Symbol:PROM1
Accession:XM_047416372
Location:INTRON

Gene Symbol:PROM1
Accession:XM_047416374
Location:INTRON

Gene Symbol:PROM1
Accession:XM_047416377
Location:INTRON

Gene Symbol:PROM1
Accession:XM_047416375
Location:INTRON

Gene Symbol:PROM1
Accession:NM_001145849
Location:INTRON

Gene Symbol:PROM1
Accession:XM_005248195
Location:INTRON

Gene Symbol:PROM1
Accession:XM_011513900
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:16199547   PMID:17605048   PMID:19718270   PMID:24154662   PMID:25474345   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001075507 CLINVAR
  RCV001228903 CLINVAR
  RCV001724244 CLINVAR
dbSNP (RS) rs375813885 CLINVAR
MedGen C0854723 CLINVAR
  C3661900 CLINVAR
  C4749334 CLINVAR
NCBI Gene PROM1 CLINVAR
OMIM 604365 CLINVAR
  608051 CLINVAR
SNOMED CT 232050001 CLINVAR
  314407005 CLINVAR