rs370302107 Rat Genome Database

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Variant: rs370302107 -  Homo sapiens

RGD ID: 14698690
RS ID: rs370302107
ClinVar ID: CV624036
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PROM1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 4 15,993,863
GRCh38 4 15,992,240
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000004.12:g.15992240C>T
NC_000004.11:g.15993863C>T
NM_006017.2:c.1911+8G>A
NM_001145851.2:c.1884+8G>A
More... 		08/24/2018 intron variant benign|likely benign|uncertain significance Bull's eye macular dystrophy; none provided; 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:XM_011513895
Location:INTRON

Gene Symbol:PROM1
Accession:NM_001371408
Location:INTRON

Gene Symbol:PROM1
Accession:NM_001371407
Location:INTRON

Gene Symbol:PROM1
Accession:XM_011513900
Location:INTRON

Gene Symbol:PROM1
Accession:XM_047416377
Location:INTRON

Gene Symbol:PROM1
Accession:XM_047416373
Location:INTRON

Gene Symbol:PROM1
Accession:NM_001371406
Location:INTRON

Gene Symbol:PROM1
Accession:XM_047416375
Location:INTRON

Gene Symbol:PROM1
Accession:NM_001145852
Location:INTRON

Gene Symbol:PROM1
Accession:NM_006017
Location:INTRON

Gene Symbol:PROM1
Accession:XM_011513897
Location:INTRON

Gene Symbol:PROM1
Accession:XM_047416376
Location:INTRON

Gene Symbol:PROM1
Accession:NM_001145850
Location:INTRON

Gene Symbol:PROM1
Accession:XM_006713974
Location:INTRON

Gene Symbol:PROM1
Accession:XM_047416374
Location:INTRON

Gene Symbol:PROM1
Accession:XM_047416379
Location:INTRON

Gene Symbol:PROM1
Accession:XM_005248195
Location:INTRON

Gene Symbol:PROM1
Accession:NM_001145849
Location:INTRON

Gene Symbol:PROM1
Accession:XM_047416370
Location:INTRON

Gene Symbol:PROM1
Accession:XM_011513893
Location:INTRON

Gene Symbol:PROM1
Accession:NM_001145851
Location:INTRON

Gene Symbol:PROM1
Accession:XM_005248196
Location:INTRON

Gene Symbol:PROM1
Accession:XM_017008800
Location:INTRON

Gene Symbol:PROM1
Accession:XM_011513894
Location:INTRON

Gene Symbol:PROM1
Accession:XM_011513903
Location:INTRON

Gene Symbol:PROM1
Accession:XM_047416378
Location:INTRON

Gene Symbol:PROM1
Accession:XM_047416372
Location:INTRON

Gene Symbol:PROM1
Accession:NM_001145848
Location:INTRON

Gene Symbol:PROM1
Accession:NM_001145847
Location:INTRON

Gene Symbol:PROM1
Accession:XM_011513902
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532   PMID:30718709  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000787863 CLINVAR
  RCV000895051 CLINVAR
  RCV001146547 CLINVAR
  RCV001146548 CLINVAR
  RCV001149316 CLINVAR
dbSNP (RS) rs370302107 CLINVAR
MedGen C0035334 CLINVAR
  C1863534 CLINVAR
  C2675210 CLINVAR
  C3661900 CLINVAR
  C4749334 CLINVAR
NCBI Gene PROM1 CLINVAR
OMIM 268000 CLINVAR
  603786 CLINVAR
  604365 CLINVAR
  608051 CLINVAR
  612657 CLINVAR
SNOMED CT 232050001 CLINVAR
  28835009 CLINVAR