RGD:13792057 Rat Genome Database

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Variant: RGD:13792057 -  Homo sapiens

RGD ID: 13792057
RS ID: rs780675808
ClinVar ID: CV548358
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GALK1  ITGB4  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 17 73,753,190
GRCh38 17 75,757,109
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000017.11:g.75757109T>C
NC_000017.10:g.73753190T>C
NM_001005731.3:c.5008+2T>C
NM_001321123.2:c.5008+2T>C
More... 		06/30/2021 intron variant|splice donor variant likely pathogenic|uncertain significance Adult junctional epidermolysis bullosa; Aplasia cutis congenita with gastrointestinal atresia; Carmi syndrome; Cockayne-Touraine type epidermolysis bullosa; EB-PA-ACC; EBS, acral form; Epidermolysis bullosa junctionalis with pyloric atresia; Epidermolysis bullosa junctionalis, disentis type; EPIDERMOLYSIS BULLOSA JUNCTIONALIS, NON-HERLITZ TYPE; Epidermolysis bullosa junctionalis, progressive; Epidermolysis bullosa junctionalis, severe nonlethal; Epidermolysis bullosa of hands and feet; Epidermolysis bullosa simplex 1C, localized; Epidermolysis bullosa simplex, Cockayne-Touraine type; Epidermolysis Bullosa Simplex, Weber-Cockayne Type; EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1A, INTERMEDIATE; EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, GENERALIZED INTERMEDIATE; EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, NON-HERLITZ TYPE; EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5B, WITH PYLORIC ATRESIA; Epidermolysis bullosa, junctional, non-herlitz type, somatic mosaic revertant; Epidermolysis bullosa, junctional, with pyloric atresia and aplasia cutis congenita; Galactokinase deficiency with cataracts; Galactosemia 2; GALACTOSEMIA II; Hereditary galactokinase deficiency; Junctional epidermolysis bullosa, non-Herlitz type; Localized epidermolysis bullosa simplex; none provided; Weber-Cockayne Syndrome

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

Gene Symbol:ITGB4
Accession:XM_006721866
Location:INTRON

Gene Symbol:ITGB4
Accession:NM_001321123
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:NM_001005619
Location:INTRON

Gene Symbol:ITGB4
Accession:XM_011524751
Location:INTRON

Gene Symbol:ITGB4
Accession:XM_047435927
Location:INTRON

Gene Symbol:ITGB4
Accession:XM_011524752
Location:INTRON

Gene Symbol:ITGB4
Accession:XM_047435929
Location:INTRON

Gene Symbol:ITGB4
Accession:XM_005257311
Location:INTRON

Gene Symbol:ITGB4
Accession:XM_047435928
Location:INTRON

Gene Symbol:ITGB4
Accession:NM_000213
Location:INTRON

Gene Symbol:ITGB4
Accession:XM_005257309
Location:INTRON

Gene Symbol:GALK1
Accession:NM_000154
Location:INTRON

Gene Symbol:ITGB4
Accession:NM_001005731
Location:INTRON

Gene Symbol:ITGB4
Accession:XM_047435926
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:11328943   PMID:16199547   PMID:16473856   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000668237 CLINVAR
  RCV001536079 CLINVAR
  RCV002466260 CLINVAR
  RCV003767961 CLINVAR
dbSNP (RS) rs780675808 CLINVAR
MedGen C0268155 CLINVAR
  C3661900 CLINVAR
  C5676875 CLINVAR
  C5676956 CLINVAR
NCBI Gene GALK1 CLINVAR
  ITGB4 CLINVAR
OMIM 131800 CLINVAR
  147557 CLINVAR
  226650 CLINVAR
  226730 CLINVAR
  230200 CLINVAR
  604313 CLINVAR
  619816 CLINVAR
SNOMED CT 124302001 CLINVAR
  33662006 CLINVAR