RGD:11651587 Rat Genome Database

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Variant: RGD:11651587 -  Homo sapiens

RGD ID: 11651587
RS ID: rs886055134
ClinVar ID: CV283742
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ITGA6  PDK1-AS1  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 173,369,578
GRCh38 2 172,504,850
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_008853.1:g.82265A>C
NC_000002.12:g.172504850A>C
NC_000002.11:g.173369578A>C
NM_000210.2:c.*782A>C
More... 		01/12/2018 3 prime utr 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:ITGA6
Accession:NM_001365529
Location:3UTRS;EXON

Gene Symbol:ITGA6
Accession:NM_000210
Location:3UTRS;EXON

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

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

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

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

Gene Symbol:ITGA6
Accession:NM_001316306
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:PDK1-AS1
Accession:NR_186178
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:PDK1-AS1
Accession:NR_186177
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 RCV000299717 CLINVAR
dbSNP (RS) rs886055134 CLINVAR
MedGen C5676875 CLINVAR
NCBI Gene ITGA6 CLINVAR
  PDK1-AS1 CLINVAR
OMIM 147556 CLINVAR
  226730 CLINVAR