RGD:13619350 Rat Genome Database

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Variant: RGD:13619350 -  Homo sapiens

RGD ID: 13619350
RS ID: rs1554060181
ClinVar ID: CV520588
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: APC  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 5 112,043,202
GRCh38 5 112,707,505
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000005.10:g.112707505A>G
NM_000038.5:c.-30439A>G
NM_001354895.2:c.-396A>G
NM_001127511.3:c.-213A>G
More... 		10/19/2017 5 prime utr variant uncertain significance APC-Associated Polyposis Conditions; FAMILIAL ADENOMATOUS POLYPOSIS 1, ATTENUATED; POLYPOSIS, ADENOMATOUS INTESTINAL
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:APC
Accession:NM_001127511
Location:5UTRS;EXON

Gene Symbol:APC
Accession:NM_001354895
Location:5UTRS;EXON

Gene Symbol:APC
Accession:NM_001354897
Location:5UTRS;EXON

Gene Symbol:APC
Accession:NM_001354902
Location:5UTRS;EXON

Gene Symbol:APC
Accession:NM_001407470
Location:5UTRS;EXON

Gene Symbol:APC
Accession:NM_001407472
Location:5UTRS;EXON

Gene Symbol:APC
Accession:NM_001407447
Location:5UTRS;EXON

Gene Symbol:APC
Accession:NM_001407456
Location:5UTRS;EXON

Gene Symbol:APC
Accession:NM_001407460
Location:5UTRS;EXON

Gene Symbol:APC
Accession:NM_001407452
Location:5UTRS;EXON

Gene Symbol:APC
Accession:NM_001407469
Location:5UTRS;EXON

Gene Symbol:APC
Accession:NM_001407446
Location:5UTRS;EXON

Gene Symbol:APC
Accession:NM_001407448
Location:5UTRS;EXON

Gene Symbol:APC
Accession:NM_001407450
Location:5UTRS;EXON

Gene Symbol:APC
Accession:NM_001407457
Location:5UTRS;EXON

Gene Symbol:APC
Accession:NM_001407458
Location:5UTRS;EXON

Gene Symbol:APC
Accession:NM_001407453
Location:5UTRS;EXON

Gene Symbol:APC
Accession:NR_176366
Location:EXON;NON-CODING

Gene Symbol:APC
Accession:NR_176365
Location:EXON;NON-CODING

Gene Symbol:APC
Accession:NM_001127510
Location:INTRON

Gene Symbol:APC
Accession:NM_000038
Location:INTRON

Gene Symbol:APC
Accession:NM_001354898
Location:INTRON

Gene Symbol:APC
Accession:NM_001354904
Location:INTRON

Gene Symbol:APC
Accession:NM_001354906
Location:INTRON

Gene Symbol:APC
Accession:NM_001354896
Location:INTRON

Gene Symbol:APC
Accession:NM_001354903
Location:INTRON

Gene Symbol:APC
Accession:NM_001354899
Location:INTRON

Gene Symbol:APC
Accession:NM_001354900
Location:INTRON

Gene Symbol:APC
Accession:NM_001354901
Location:INTRON

Gene Symbol:APC
Accession:NM_001354905
Location:INTRON

Gene Symbol:APC
Accession:NM_001407449
Location:INTRON

Gene Symbol:APC
Accession:NM_001407455
Location:INTRON

Gene Symbol:APC
Accession:NM_001407459
Location:INTRON

Gene Symbol:APC
Accession:NM_001407451
Location:INTRON

Gene Symbol:APC
Accession:NM_001407471
Location:INTRON

Gene Symbol:APC
Accession:NM_001407454
Location:INTRON

Gene Symbol:APC
Accession:NM_001407467
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003538581 CLINVAR
dbSNP (RS) rs1554060181 CLINVAR
MedGen C2713442 CLINVAR
NCBI Gene APC CLINVAR
  LOC129994371 CLINVAR
OMIM 175100 CLINVAR
  611731 CLINVAR