RGD:11660734 Rat Genome Database

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Variant: RGD:11660734 -  Homo sapiens

RGD ID: 11660734
RS ID: rs757546708
ClinVar ID: CV329905
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ITGB4  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 73,738,580
GRCh38 17 75,742,499
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_007372.1:g.26065C>T
NC_000017.11:g.75742499C>T
NC_000017.10:g.73738580C>T
NM_001005731.1:c.2782+10C>T
More...
06/14/2016 intron variant uncertain significance infancy <1 / 1 000 000 Aplasia cutis congenita with gastrointestinal atresia; Carmi syndrome; EB-PA-ACC; Epidermolysis bullosa junctionalis with pyloric atresia; EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5B, WITH PYLORIC ATRESIA; EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA AND APLASIA CUTIS CONGENITA; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ITGB4
Accession:NM_000213
Location:INTRON

Gene Symbol:ITGB4
Accession:NM_001005731
Location:INTRON

Gene Symbol:ITGB4
Accession:NM_001005619
Location:INTRON

Gene Symbol:ITGB4
Accession:XM_005257311
Location:INTRON

Gene Symbol:ITGB4
Accession:XM_005257309
Location:INTRON

Gene Symbol:ITGB4
Accession:XM_006721866
Location:INTRON

Gene Symbol:ITGB4
Accession:XM_006721867
Location:INTRON

Gene Symbol:ITGB4
Accession:XM_006721868
Location:INTRON

Gene Symbol:ITGB4
Accession:XM_006721870
Location:INTRON

Gene Symbol:ITGB4
Accession:XM_011524751
Location:INTRON

Gene Symbol:ITGB4
Accession:XM_011524752
Location:INTRON

Gene Symbol:ITGB4
Accession:NM_001321123
Location:INTRON

Gene Symbol:ITGB4
Accession:XM_047435927
Location:INTRON

Gene Symbol:ITGB4
Accession:XM_047435929
Location:INTRON

Gene Symbol:ITGB4
Accession:XM_047435926
Location:INTRON

Gene Symbol:ITGB4
Accession:XM_047435928
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000369900 CLINVAR
  RCV003105870 CLINVAR
dbSNP (RS) rs757546708 CLINVAR
MedGen C3661900 CLINVAR
  C5676875 CLINVAR
NCBI Gene ITGB4 CLINVAR
OMIM 147557 CLINVAR
  226730 CLINVAR