RGD:156224397 Rat Genome Database

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Variant: RGD:156224397 -  Homo sapiens

RGD ID: 156224397
ClinVar ID: CV1900037
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ARFGEF1  CSPP1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 68,103,014
GRCh38 8 67,190,779
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001291339.2:c.2280+20C>T
NM_001363133.2:c.3054+20C>T
NM_001363132.2:c.3135+20C>T
NM_001364870.1:c.3216+20C>T
More... 		04/23/2022 intron variant likely benign
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CSPP1
Accession:NM_024790
Location:INTRON

Gene Symbol:ARFGEF1
Accession:NM_006421
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:CSPP1
Accession:XM_005251305
Location:INTRON

Gene Symbol:CSPP1
Accession:XM_006716477
Location:INTRON

Gene Symbol:CSPP1
Accession:XM_006716474
Location:INTRON

Gene Symbol:CSPP1
Accession:NM_001291339
Location:INTRON

Gene Symbol:CSPP1
Accession:XM_011517598
Location:INTRON

Gene Symbol:CSPP1
Accession:XM_011517599
Location:INTRON

Gene Symbol:CSPP1
Accession:XM_011517601
Location:INTRON

Gene Symbol:CSPP1
Accession:XM_011517611
Location:INTRON

Gene Symbol:CSPP1
Accession:XM_017013847
Location:INTRON

Gene Symbol:CSPP1
Accession:XM_017013854
Location:INTRON

Gene Symbol:CSPP1
Accession:XM_017013849
Location:INTRON

Gene Symbol:CSPP1
Accession:NM_001363132
Location:INTRON

Gene Symbol:CSPP1
Accession:NM_001363131
Location:INTRON

Gene Symbol:CSPP1
Accession:NM_001363133
Location:INTRON

Gene Symbol:CSPP1
Accession:NM_001364869
Location:INTRON

Gene Symbol:CSPP1
Accession:NM_001364870
Location:INTRON

Gene Symbol:CSPP1
Accession:NM_001382391
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:ARFGEF1
Accession:XM_047421266
Location:INTRON

Gene Symbol:CSPP1
Accession:XM_047422253
Location:INTRON

Gene Symbol:CSPP1
Accession:XM_047422245
Location:INTRON

Gene Symbol:CSPP1
Accession:XM_047422257
Location:INTRON

Gene Symbol:CSPP1
Accession:XM_047422254
Location:INTRON

Gene Symbol:CSPP1
Accession:XM_047422244
Location:INTRON

Gene Symbol:CSPP1
Accession:XM_047422249
Location:INTRON

Gene Symbol:CSPP1
Accession:XM_047422246
Location:INTRON

Gene Symbol:CSPP1
Accession:XM_047422260
Location:INTRON

Gene Symbol:CSPP1
Accession:XM_047422256
Location:INTRON

Gene Symbol:CSPP1
Accession:XM_047422252
Location:INTRON

Gene Symbol:CSPP1
Accession:XM_047422255
Location:INTRON

Gene Symbol:CSPP1
Accession:XM_047422259
Location:INTRON

Gene Symbol:CSPP1
Accession:XM_047422261
Location:INTRON

Gene Symbol:CSPP1
Accession:XM_047422250
Location:INTRON

Gene Symbol:CSPP1
Accession:XM_047422247
Location:INTRON

Gene Symbol:CSPP1
Accession:XM_047422258
Location:INTRON

Gene Symbol:CSPP1
Accession:XM_047422251
Location:INTRON

Gene Symbol:CSPP1
Accession:XM_047422262
Location:INTRON

Gene Symbol:ARFGEF1
Accession:NM_001413186
Location:INTRON

Gene Symbol:ARFGEF1
Accession:NM_001413187
Location:INTRON

Gene Symbol:ARFGEF1
Accession:NM_001413185
Location:INTRON

Gene Symbol:ARFGEF1
Accession:NM_001413184
Location:INTRON

Gene Symbol:ARFGEF1
Accession:NM_001413188
Location:INTRON

Gene Symbol:ARFGEF1
Accession:NM_001413197
Location:INTRON

Gene Symbol:ARFGEF1
Accession:NM_001413196
Location:INTRON

Gene Symbol:ARFGEF1
Accession:NM_001413190
Location:INTRON

Gene Symbol:ARFGEF1
Accession:NM_001413192
Location:INTRON

Gene Symbol:ARFGEF1
Accession:NM_001413189
Location:INTRON

Gene Symbol:ARFGEF1
Accession:NM_001413191
Location:INTRON

Gene Symbol:ARFGEF1
Accession:NM_001413194
Location:INTRON

Gene Symbol:ARFGEF1
Accession:NM_001413193
Location:INTRON

Gene Symbol:ARFGEF1
Accession:NM_001413195
Location:INTRON

Gene Symbol:ARFGEF1
Accession:NR_182117
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003085119 CLINVAR
MedGen C3810212 CLINVAR
NCBI Gene ARFGEF1 CLINVAR
  CSPP1 CLINVAR
OMIM 604141 CLINVAR
  611654 CLINVAR
  615636 CLINVAR