RGD:28876643 Rat Genome Database

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Variant: RGD:28876643 -  Homo sapiens

RGD ID: 28876643
RS ID: rs565937964
ClinVar ID: CV881607
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ITGA6  PDK1-AS1  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 173,370,135
GRCh38 2 172,505,407
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001079818.3:c.*1155T>A
NM_000210.2:c.*1339T>A
NM_001365529.2:c.*1155T>A
NM_000210.4:c.*1339T>A
More...
01/13/2018 3 prime utr variant likely benign 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:ITGA6
Accession:NM_000210
Location:3UTRS;EXON

Gene Symbol:ITGA6
Accession:NM_001079818
Location:3UTRS;EXON

Gene Symbol:ITGA6
Accession:NM_001316306
Location:3UTRS;EXON

Gene Symbol:ITGA6
Accession:XM_017004005
Location:3UTRS;EXON

Gene Symbol:ITGA6
Accession:XM_017004006
Location:3UTRS;EXON

Gene Symbol:ITGA6
Accession:NM_001365530
Location:3UTRS;EXON

Gene Symbol:ITGA6
Accession:NM_001365529
Location:3UTRS;EXON

Gene Symbol:ITGA6
Accession:NM_001394928
Location:3UTRS;EXON

Gene Symbol:ITGA6
Accession:XM_047444221
Location:INTRON

Gene Symbol:ITGA6
Accession:XM_047444222
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON;NON-CODING

Gene Symbol:
Accession:
Location:INTRON;NON-CODING

Gene Symbol:
Accession:
Location:INTRON;NON-CODING

Gene Symbol:
Accession:
Location:INTRON;NON-CODING

Gene Symbol:
Accession:
Location:INTRON;NON-CODING

Gene Symbol:
Accession:
Location:INTRON;NON-CODING

Gene Symbol:
Accession:
Location:INTRON;NON-CODING

Gene Symbol:
Accession:
Location:INTRON;NON-CODING

Gene Symbol:
Accession:
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001134471 CLINVAR
dbSNP (RS) rs565937964 CLINVAR
MedGen C5676875 CLINVAR
NCBI Gene ITGA6 CLINVAR
  PDK1-AS1 CLINVAR
OMIM 147556 CLINVAR
  226730 CLINVAR