RGD:12906422 Rat Genome Database

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Variant: RGD:12906422 -  Homo sapiens

RGD ID: 12906422
RS ID: rs1085307630
ClinVar ID: CV415800
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IQSEC2  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 53,265,682
GRCh38 X 53,236,500
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000023.11:g.53236500G>C
NC_000023.10:g.53265682G>C
NG_021296.2:g.89851C>G
NM_015075.2:c.2663-5C>G
More... 		04/17/2017 intron variant likely pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:IQSEC2
Accession:NM_001243197
Location:INTRON

Gene Symbol:IQSEC2
Accession:XM_006724583
Location:INTRON

Gene Symbol:IQSEC2
Accession:XM_047441928
Location:INTRON

Gene Symbol:IQSEC2
Accession:XM_047441931
Location:INTRON

Gene Symbol:IQSEC2
Accession:NM_001410736
Location:INTRON

Gene Symbol:IQSEC2
Accession:XM_047441932
Location:INTRON

Gene Symbol:IQSEC2
Accession:XM_006724584
Location:INTRON

Gene Symbol:IQSEC2
Accession:NM_015075
Location:INTRON

Gene Symbol:IQSEC2
Accession:XM_006724579
Location:INTRON

Gene Symbol:IQSEC2
Accession:NM_001111125
Location:INTRON

Gene Symbol:IQSEC2
Accession:XM_006724582
Location:INTRON

Gene Symbol:IQSEC2
Accession:XM_006724581
Location:INTRON

Gene Symbol:IQSEC2
Accession:XM_017029360
Location:INTRON

Gene Symbol:IQSEC2
Accession:XM_047441929
Location:INTRON

Gene Symbol:IQSEC2
Accession:XM_011530777
Location:INTRON

Gene Symbol:IQSEC2
Accession:XM_011530774
Location:INTRON

Gene Symbol:IQSEC2
Accession:XM_011530773
Location:INTRON

Gene Symbol:IQSEC2
Accession:XM_011530776
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:IQSEC2
Accession:XM_047441933
Location:INTRON

Gene Symbol:IQSEC2
Accession:XM_006724580
Location:INTRON

Gene Symbol:IQSEC2
Accession:XR_938365
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000489196 CLINVAR
dbSNP (RS) rs1085307630 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene IQSEC2 CLINVAR
OMIM 300522 CLINVAR