RGD:13807716 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: RGD:13807716 -  Homo sapiens

RGD ID: 13807716
RS ID: rs781873807
ClinVar ID: CV574805
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IQSEC2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 53,321,109
GRCh38 X 53,291,927
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.34424C>T
NC_000023.10:g.53321109G>A
LRG_1194t1:c.708-3C>T
LRG_1194:g.34424C>T
More...
06/08/2018 intron variant likely pathogenic|uncertain significance 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; Toe walking
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Tip-toe gait  (IAGP)

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:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000688044 CLINVAR
  RCV002227941 CLINVAR
  RCV002544797 CLINVAR
dbSNP (RS) rs781873807 CLINVAR
MedGen C0427144 CLINVAR
  C0950123 CLINVAR
  C2931498 CLINVAR
NCBI Gene IQSEC2 CLINVAR
OMIM 300522 CLINVAR
  300551 CLINVAR
  309530 CLINVAR