RGD:11657010 Rat Genome Database

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Variant: RGD:11657010 -  Homo sapiens

RGD ID: 11657010
RS ID: rs1574028
ClinVar ID: CV282905
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ITGA6  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 173,333,840
GRCh38 2 172,469,112
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
NM_001079818.3:c.388-13C>A
NG_008853.1:g.46527C>A
NC_000002.12:g.172469112C>A
NC_000002.11:g.173333840C>A
More...
12/03/2021 intron variant benign|likely benign 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:ITGA6
Accession:NM_000210
Location:INTRON

Gene Symbol:ITGA6
Accession:NM_001079818
Location:INTRON

Gene Symbol:ITGA6
Accession:NM_001316306
Location:INTRON

Gene Symbol:ITGA6
Accession:XM_017004005
Location:INTRON

Gene Symbol:ITGA6
Accession:XM_017004006
Location:INTRON

Gene Symbol:ITGA6
Accession:NM_001365530
Location:INTRON

Gene Symbol:ITGA6
Accession:NM_001365529
Location:INTRON

Gene Symbol:ITGA6
Accession:NM_001394928
Location:INTRON

Gene Symbol:ITGA6
Accession:XM_047444221
Location:INTRON

Gene Symbol:ITGA6
Accession:XM_047444222
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000338175 CLINVAR
  RCV001675828 CLINVAR
dbSNP (RS) rs1574028 CLINVAR
MedGen C3661900 CLINVAR
  C5676875 CLINVAR
NCBI Gene ITGA6 CLINVAR
OMIM 147556 CLINVAR
  226730 CLINVAR