RGD:13621006 Rat Genome Database

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Variant: RGD:13621006 -  Homo sapiens

RGD ID: 13621006
RS ID: rs184248834
ClinVar ID: CV535034
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IQSEC2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 53,271,097
GRCh38 X 53,241,915
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_021296.2:g.84436G>A
NC_000023.11:g.53241915C>T
NC_000023.10:g.53271097C>T
NM_015075.2:c.2275-6G>A
More...
09/11/2017 intron variant likely benign Atkin Flaitz Patil Smith syndrome; INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 1; MENTAL RETARDATION, X-LINKED 18; MENTAL RETARDATION, X-LINKED 78; Mental retardation, X-linked, nonspecific; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:IQSEC2
Accession:NM_015075
Location:INTRON

Gene Symbol:IQSEC2
Accession:NM_001111125
Location:INTRON

Gene Symbol:IQSEC2
Accession:NM_001243197
Location:INTRON

Gene Symbol:IQSEC2
Accession:XM_006724582
Location:INTRON

Gene Symbol:IQSEC2
Accession:XM_006724581
Location:INTRON

Gene Symbol:IQSEC2
Accession:XM_006724583
Location:INTRON

Gene Symbol:IQSEC2
Accession:XM_006724579
Location:INTRON

Gene Symbol:IQSEC2
Accession:XM_006724580
Location:INTRON

Gene Symbol:IQSEC2
Accession:XM_006724584
Location:INTRON

Gene Symbol:IQSEC2
Accession:XM_011530773
Location:INTRON

Gene Symbol:IQSEC2
Accession:XM_011530774
Location:INTRON

Gene Symbol:IQSEC2
Accession:XM_011530777
Location:INTRON

Gene Symbol:IQSEC2
Accession:XM_011530776
Location:INTRON

Gene Symbol:IQSEC2
Accession:XM_017029360
Location:INTRON

Gene Symbol:IQSEC2
Accession:XM_047441928
Location:INTRON

Gene Symbol:IQSEC2
Accession:XM_047441929
Location:INTRON

Gene Symbol:IQSEC2
Accession:XM_047441932
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:IQSEC2
Accession:XM_047441933
Location:INTRON

Gene Symbol:IQSEC2
Accession:XM_047441931
Location:INTRON

Gene Symbol:IQSEC2
Accession:NM_001410736
Location:INTRON

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000647978 CLINVAR
  RCV001563476 CLINVAR
dbSNP (RS) rs184248834 CLINVAR
MedGen C2931498 CLINVAR
  C3661900 CLINVAR
NCBI Gene IQSEC2 CLINVAR
OMIM 300522 CLINVAR
  300551 CLINVAR
  309530 CLINVAR