RGD:28873916 Rat Genome Database

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Variant: RGD:28873916 -  Homo sapiens

RGD ID: 28873916
RS ID: rs977456146
ClinVar ID: CV873777
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYP19A1  MIR4713HG  PIRC66  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 15 51,500,879
GRCh38 15 51,208,682
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001347252.2:c.*2126G>A
NM_001347253.2:c.*2126G>A
NM_001347250.2:c.*2126G>A
NM_001347251.2:c.*2126G>A
More... 		01/13/2018 3 prime utr 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_001347249
Location:3UTRS;EXON

Gene Symbol:CYP19A1
Accession:NM_001347251
Location:3UTRS;EXON

Gene Symbol:CYP19A1
Accession:NM_001347252
Location:3UTRS;EXON

Gene Symbol:CYP19A1
Accession:NM_001347248
Location:3UTRS;EXON

Gene Symbol:CYP19A1
Accession:NM_001347253
Location:3UTRS;EXON

Gene Symbol:CYP19A1
Accession:NM_001347255
Location:3UTRS;EXON

Gene Symbol:CYP19A1
Accession:NM_001347250
Location:3UTRS;EXON

Gene Symbol:CYP19A1
Accession:NM_001347254
Location:3UTRS;EXON

Gene Symbol:CYP19A1
Accession:NM_031226
Location:3UTRS;EXON

Gene Symbol:CYP19A1
Accession:NM_000103
Location:3UTRS;EXON

Gene Symbol:CYP19A1
Accession:NM_001347256
Location:3UTRS;EXON

Gene Symbol:PIRC66
Accession:XR_932231
Location:INTRON;NON-CODING

Gene Symbol:PIRC66
Accession:XR_932226
Location:INTRON;NON-CODING

Gene Symbol:PIRC66
Accession:XR_932229
Location:INTRON;NON-CODING

Gene Symbol:PIRC66
Accession:XR_932224
Location:INTRON;NON-CODING

Gene Symbol:MIR4713HG
Accession:NR_146310
Location:INTRON;NON-CODING

Gene Symbol:PIRC66
Accession:XR_932222
Location:INTRON;NON-CODING

Gene Symbol:PIRC66
Accession:XR_932227
Location:INTRON;NON-CODING

Gene Symbol:PIRC66
Accession:XR_932223
Location:INTRON;NON-CODING

Gene Symbol:PIRC66
Accession:XR_932230
Location:INTRON;NON-CODING

Gene Symbol:PIRC66
Accession:XR_932221
Location:INTRON;NON-CODING

Gene Symbol:PIRC66
Accession:XR_932220
Location:INTRON;NON-CODING

Gene Symbol:PIRC66
Accession:XR_932225
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001115232 CLINVAR
dbSNP (RS) rs977456146 CLINVAR
MedGen C1960539 CLINVAR
NCBI Gene CYP19A1 CLINVAR
  MIR4713HG CLINVAR
  PIRC66 CLINVAR
OMIM 107910 CLINVAR
  613546 CLINVAR