RGD:28889301 Rat Genome Database

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Variant: RGD:28889301 -  Homo sapiens

RGD ID: 28889301
RS ID: rs963578789
ClinVar ID: CV894561
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PDE4D  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 58,270,433
GRCh38 5 58,974,606
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001364603.1:c.*58G>A
NM_001364604.1:c.*58G>A
NM_001197221.2:c.*58G>A
NM_001197222.2:c.*58G>A
More... 		01/12/2018 3 prime utr variant uncertain significance ACRODYSOSTOSIS 2 WITH HORMONE RESISTANCE; ACRODYSOSTOSIS 2 WITHOUT HORMONE RESISTANCE
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PDE4D
Accession:XM_047417293
Location:3UTRS;EXON

Gene Symbol:PDE4D
Accession:NM_001197221
Location:3UTRS;EXON

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

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

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

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

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

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

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

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

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

Gene Symbol:PDE4D
Accession:NM_001165899
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:XM_047417297
Location:3UTRS;EXON

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

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

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

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

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

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

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

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

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

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

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

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

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

Gene Symbol:PDE4D
Accession:NM_001364601
Location:INTRON

Gene Symbol:PDE4D
Accession:NM_001364602
Location:INTRON

Gene Symbol:PDE4D
Accession:XM_047417300
Location:INTRON

Gene Symbol:PDE4D
Accession:NM_001364600
Location:INTRON

Gene Symbol:PDE4D
Accession:XM_047417301
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001152046 CLINVAR
dbSNP (RS) rs963578789 CLINVAR
MedGen C3553250 CLINVAR
NCBI Gene PDE4D CLINVAR
OMIM 600129 CLINVAR
  614613 CLINVAR