RGD:13435967 Rat Genome Database

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Variant: RGD:13435967 -  Homo sapiens

RGD ID: 13435967
RS ID: rs138713415
ClinVar ID: CV433367
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ARHGEF10  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 8 1,806,116
GRCh38 8 1,857,950
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_234:g.38968T>C
NG_008480.1:g.38968T>C
NC_000008.11:g.1857950T>C
NC_000008.10:g.1806116T>C
More... 		04/08/2020 intron variant benign|likely benign AllHighlyPenetrant; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ARHGEF10
Accession:XM_047422458
Location:5UTRS;INTRON

Gene Symbol:ARHGEF10
Accession:XM_047422461
Location:INTRON

Gene Symbol:ARHGEF10
Accession:XM_047422460
Location:INTRON

Gene Symbol:ARHGEF10
Accession:XM_024447335
Location:INTRON

Gene Symbol:ARHGEF10
Accession:XM_047422451
Location:INTRON

Gene Symbol:ARHGEF10
Accession:NM_014629
Location:INTRON

Gene Symbol:ARHGEF10
Accession:XM_047422450
Location:INTRON

Gene Symbol:ARHGEF10
Accession:XM_047422462
Location:INTRON

Gene Symbol:ARHGEF10
Accession:XM_011534768
Location:INTRON

Gene Symbol:ARHGEF10
Accession:XM_047422449
Location:INTRON

Gene Symbol:ARHGEF10
Accession:XM_005266041
Location:INTRON

Gene Symbol:ARHGEF10
Accession:NM_001308153
Location:INTRON

Gene Symbol:ARHGEF10
Accession:XM_011534770
Location:INTRON

Gene Symbol:ARHGEF10
Accession:XM_047422454
Location:INTRON

Gene Symbol:ARHGEF10
Accession:XM_047422456
Location:INTRON

Gene Symbol:ARHGEF10
Accession:NM_001308152
Location:INTRON

Gene Symbol:ARHGEF10
Accession:XM_047422453
Location:INTRON

Gene Symbol:ARHGEF10
Accession:XM_047422459
Location:INTRON

Gene Symbol:ARHGEF10
Accession:XM_047422452
Location:INTRON

Gene Symbol:ARHGEF10
Accession:XM_047422455
Location:INTRON

Gene Symbol:ARHGEF10
Accession:XM_017014003
Location:INTRON

Gene Symbol:ARHGEF10
Accession:XM_047422457
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000625164 CLINVAR
  RCV000959003 CLINVAR
  RCV001706652 CLINVAR
dbSNP (RS) rs138713415 CLINVAR
MedGen C1842357 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene ARHGEF10 CLINVAR
OMIM 608136 CLINVAR
  608236 CLINVAR