RGD:11351232 Rat Genome Database

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Variant: RGD:11351232 -  Homo sapiens

RGD ID: 11351232
RS ID: rs878853399
ClinVar ID: CV238023
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PROM1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 4 16,025,917
GRCh38 4 16,024,294
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.16024294C>T
NC_000004.11:g.16025917C>T
NM_001145847.2:c.667+1G>A
NM_006017.2:c.694+1G>A
More... 		splice donor variant uncertain significance
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_001145852
Location:INTRON

Gene Symbol:PROM1
Accession:NM_001145850
Location:INTRON

Gene Symbol:PROM1
Accession:XM_011513897
Location:INTRON

Gene Symbol:PROM1
Accession:XM_005248196
Location:INTRON

Gene Symbol:PROM1
Accession:XM_011513895
Location:INTRON

Gene Symbol:PROM1
Accession:XM_011513903
Location:INTRON

Gene Symbol:PROM1
Accession:NM_001371406
Location:INTRON

Gene Symbol:PROM1
Accession:XM_047416376
Location:INTRON

Gene Symbol:PROM1
Accession:NM_001145849
Location:INTRON

Gene Symbol:PROM1
Accession:NM_001145848
Location:INTRON

Gene Symbol:PROM1
Accession:NM_001145851
Location:INTRON

Gene Symbol:PROM1
Accession:XM_047416370
Location:INTRON

Gene Symbol:PROM1
Accession:XM_047416375
Location:INTRON

Gene Symbol:PROM1
Accession:XM_011513900
Location:INTRON

Gene Symbol:PROM1
Accession:XM_017008800
Location:INTRON

Gene Symbol:PROM1
Accession:XM_047416372
Location:INTRON

Gene Symbol:PROM1
Accession:XM_011513893
Location:INTRON

Gene Symbol:PROM1
Accession:NM_001145847
Location:INTRON

Gene Symbol:PROM1
Accession:NM_006017
Location:INTRON

Gene Symbol:PROM1
Accession:NM_001371408
Location:INTRON

Gene Symbol:PROM1
Accession:XM_011513894
Location:INTRON

Gene Symbol:PROM1
Accession:XM_047416378
Location:INTRON

Gene Symbol:PROM1
Accession:XM_005248195
Location:INTRON

Gene Symbol:PROM1
Accession:XM_011513902
Location:INTRON

Gene Symbol:PROM1
Accession:NM_001371407
Location:INTRON

Gene Symbol:PROM1
Accession:XM_047416377
Location:INTRON

Gene Symbol:PROM1
Accession:XM_047416373
Location:INTRON

Gene Symbol:PROM1
Accession:XM_047416374
Location:INTRON

Gene Symbol:PROM1
Accession:XM_006713974
Location:INTRON

Gene Symbol:PROM1
Accession:XM_047416379
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000225617 CLINVAR
dbSNP (RS) rs878853399 CLINVAR
MedGen C0854723 CLINVAR
NCBI Gene PROM1 CLINVAR
OMIM 604365 CLINVAR
SNOMED CT 314407005 CLINVAR