RGD:15174402 Rat Genome Database

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Variant: RGD:15174402 -  Homo sapiens

RGD ID: 15174402
RS ID: rs1221336765
ClinVar ID: CV745395
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IQSEC2  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 53,264,958
GRCh38 X 53,235,776
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_015075.2:c.2836+546G>T
NM_001111125.3:c.3501+7G>T
NG_021296.2:g.90575G>T
NC_000023.11:g.53235776C>A
More... 		09/20/2018 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
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:IQSEC2
Accession:XM_006724581
Location:INTRON

Gene Symbol:IQSEC2
Accession:XM_047441928
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_006724580
Location:INTRON

Gene Symbol:IQSEC2
Accession:NM_001410736
Location:INTRON

Gene Symbol:IQSEC2
Accession:XM_011530777
Location:INTRON

Gene Symbol:IQSEC2
Accession:XM_006724583
Location:INTRON

Gene Symbol:IQSEC2
Accession:XM_047441932
Location:INTRON

Gene Symbol:IQSEC2
Accession:XM_017029360
Location:INTRON

Gene Symbol:IQSEC2
Accession:XM_011530773
Location:INTRON

Gene Symbol:IQSEC2
Accession:XM_011530774
Location:INTRON

Gene Symbol:IQSEC2
Accession:NM_015075
Location:INTRON

Gene Symbol:IQSEC2
Accession:XM_047441931
Location:INTRON

Gene Symbol:IQSEC2
Accession:XM_047441933
Location:INTRON

Gene Symbol:IQSEC2
Accession:XM_006724579
Location:INTRON

Gene Symbol:IQSEC2
Accession:XM_006724584
Location:INTRON

Gene Symbol:IQSEC2
Accession:XM_047441929
Location:INTRON

Gene Symbol:IQSEC2
Accession:XM_011530776
Location:INTRON

Gene Symbol:
Accession:
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 RCV000905958 CLINVAR
dbSNP (RS) rs1221336765 CLINVAR
MedGen C2931498 CLINVAR
NCBI Gene IQSEC2 CLINVAR
OMIM 300522 CLINVAR
  300551 CLINVAR
  309530 CLINVAR