RGD:14693094 Rat Genome Database

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Variant: RGD:14693094 -  Homo sapiens

RGD ID: 14693094
RS ID: rs956997586
ClinVar ID: CV620872
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYP19A1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 15 51,630,691
GRCh38 15 51,338,494
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000103.4:c.-39+1G>A
NG_054933.1:g.1979C>T
NG_054998.1:g.74C>T
NM_031226.2:c.-148+1G>A
More... 		05/22/2017 splice donor variant uncertain significance Increased aromatase activity; Pseudohermaphroditism, female, due to placental aromatase deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CYP19A1
Accession:NM_031226
Location:5UTRS;INTRON

Gene Symbol:CYP19A1
Accession:NM_000103
Location:5UTRS;INTRON

Gene Symbol:CYP19A1
Accession:NM_001347253
Location:INTRON

Gene Symbol:CYP19A1
Accession:NM_001347248
Location:INTRON

Gene Symbol:CYP19A1
Accession:NM_001347250
Location:INTRON

Gene Symbol:CYP19A1
Accession:NM_001347252
Location:INTRON

Gene Symbol:CYP19A1
Accession:NM_001347256
Location:INTRON

Gene Symbol:CYP19A1
Accession:NM_001347254
Location:INTRON

Gene Symbol:CYP19A1
Accession:NM_001347251
Location:INTRON

Gene Symbol:CYP19A1
Accession:NM_001347249
Location:INTRON

Gene Symbol:CYP19A1
Accession:NM_001347255
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000778442 CLINVAR
dbSNP (RS) rs956997586 CLINVAR
MedGen C1960539 CLINVAR
NCBI Gene CYP19A1 CLINVAR
OMIM 107910 CLINVAR
  613546 CLINVAR