RGD:11659699 Rat Genome Database

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Variant: RGD:11659699 -  Homo sapiens

RGD ID: 11659699
RS ID: rs886053415
ClinVar ID: CV329922
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GALK1  ITGB4  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 73,750,654
GRCh38 17 75,754,573
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.38139C>T
NC_000017.11:g.75754573C>T
NC_000017.10:g.73750654C>T
NM_001005731.1:c.4109-3C>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
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GALK1
Accession:NM_001381985
Location:3UTRS;INTRON

Gene Symbol:ITGB4
Accession:NM_001005731
Location:INTRON

Gene Symbol:GALK1
Accession:NM_000154
Location:INTRON

Gene Symbol:ITGB4
Accession:NM_000213
Location:INTRON

Gene Symbol:ITGB4
Accession:XM_005257309
Location:INTRON

Gene Symbol:ITGB4
Accession:XM_006721868
Location:INTRON

Gene Symbol:ITGB4
Accession:XM_011524752
Location:INTRON

Gene Symbol:ITGB4
Accession:XM_006721870
Location:INTRON

Gene Symbol:ITGB4
Accession:XM_006721866
Location:INTRON

Gene Symbol:ITGB4
Accession:XM_047435928
Location:INTRON

Gene Symbol:ITGB4
Accession:XM_005257311
Location:INTRON

Gene Symbol:ITGB4
Accession:XM_047435926
Location:INTRON

Gene Symbol:ITGB4
Accession:XM_047435927
Location:INTRON

Gene Symbol:ITGB4
Accession:NM_001005619
Location:INTRON

Gene Symbol:ITGB4
Accession:XM_006721867
Location:INTRON

Gene Symbol:ITGB4
Accession:NM_001321123
Location:INTRON

Gene Symbol:ITGB4
Accession:XM_011524751
Location:INTRON

Gene Symbol:ITGB4
Accession:XM_047435929
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000360558 CLINVAR
dbSNP (RS) rs886053415 CLINVAR
MedGen C5676875 CLINVAR
NCBI Gene GALK1 CLINVAR
  ITGB4 CLINVAR
OMIM 147557 CLINVAR
  226730 CLINVAR
  604313 CLINVAR