RGD:11596736 Rat Genome Database

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Variant: RGD:11596736 -  Homo sapiens

RGD ID: 11596736
RS ID: rs557226166
ClinVar ID: CV297852
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PDE4D  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 58,267,744
GRCh38 5 58,971,917
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001197222.2:c.*2747G>A
NM_001197223.2:c.*2747G>A
NM_001349241.2:c.*2747G>A
NM_001349243.2:c.*2747G>A
More... 		05/01/2022 3 prime utr variant benign|uncertain significance ACRODYSOSTOSIS 2 WITH HORMONE RESISTANCE; ACRODYSOSTOSIS 2 WITHOUT HORMONE RESISTANCE; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PDE4D
Accession:NM_001197221
Location:3UTRS;EXON

Gene Symbol:PDE4D
Accession:XM_047417294
Location:3UTRS;EXON

Gene Symbol:PDE4D
Accession:XM_011543473
Location:3UTRS;EXON

Gene Symbol:PDE4D
Accession:XM_047417295
Location:3UTRS;EXON

Gene Symbol:PDE4D
Accession:NM_001349242
Location:3UTRS;EXON

Gene Symbol:PDE4D
Accession:XM_047417293
Location:3UTRS;EXON

Gene Symbol:PDE4D
Accession:NM_006203
Location:3UTRS;EXON

Gene Symbol:PDE4D
Accession:NM_001197219
Location:3UTRS;EXON

Gene Symbol:PDE4D
Accession:XM_017009567
Location:3UTRS;EXON

Gene Symbol:PDE4D
Accession:NM_001197218
Location:3UTRS;EXON

Gene Symbol:PDE4D
Accession:NM_001197220
Location:3UTRS;EXON

Gene Symbol:PDE4D
Accession:NM_001364603
Location:3UTRS;EXON

Gene Symbol:PDE4D
Accession:NM_001197222
Location:3UTRS;EXON

Gene Symbol:PDE4D
Accession:NM_001197223
Location:3UTRS;EXON

Gene Symbol:PDE4D
Accession:XM_024446112
Location:3UTRS;EXON

Gene Symbol:PDE4D
Accession:XM_024446110
Location:3UTRS;EXON

Gene Symbol:PDE4D
Accession:XM_047417296
Location:3UTRS;EXON

Gene Symbol:PDE4D
Accession:XM_047417298
Location:3UTRS;EXON

Gene Symbol:PDE4D
Accession:NM_001165899
Location:3UTRS;EXON

Gene Symbol:PDE4D
Accession:XM_017009566
Location:3UTRS;EXON

Gene Symbol:PDE4D
Accession:XM_047417297
Location:3UTRS;EXON

Gene Symbol:PDE4D
Accession:XM_011543469
Location:3UTRS;EXON

Gene Symbol:PDE4D
Accession:NM_001349243
Location:3UTRS;EXON

Gene Symbol:PDE4D
Accession:NM_001349241
Location:3UTRS;EXON

Gene Symbol:PDE4D
Accession:NM_001364599
Location:3UTRS;EXON

Gene Symbol:PDE4D
Accession:XM_047417299
Location:3UTRS;EXON

Gene Symbol:PDE4D
Accession:NM_001104631
Location:3UTRS;EXON

Gene Symbol:PDE4D
Accession:NM_001364604
Location:3UTRS;EXON

Gene Symbol:PDE4D
Accession:XM_047417300
Location:INTRON

Gene Symbol:PDE4D
Accession:NM_001364602
Location:INTRON

Gene Symbol:PDE4D
Accession:XM_047417301
Location:INTRON

Gene Symbol:PDE4D
Accession:NM_001364600
Location:INTRON

Gene Symbol:PDE4D
Accession:NM_001364601
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000385859 CLINVAR
  RCV003430914 CLINVAR
dbSNP (RS) rs557226166 CLINVAR
MedGen C3553250 CLINVAR
  C3661900 CLINVAR
NCBI Gene PDE4D CLINVAR
OMIM 600129 CLINVAR
  614613 CLINVAR