RGD:34898304 Rat Genome Database

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Variant: RGD:34898304 -  Homo sapiens

RGD ID: 34898304
RS ID: rs1757577291
ClinVar ID: CV915393
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: APC  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 112,111,445
GRCh38 5 112,775,748
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001354906.2:c.-505+11T>A
NM_001354900.2:c.354+11T>A
NM_001354901.2:c.354+11T>A
NM_001354905.2:c.354+11T>A
More...
02/05/2019 intron variant likely benign Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:APC
Accession:NM_001407472
Location:5UTRS;INTRON

Gene Symbol:APC
Accession:NM_001354906
Location:5UTRS;INTRON

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

Gene Symbol:APC
Accession:NM_001407471
Location:5UTRS;INTRON

Gene Symbol:APC
Accession:NM_001127511
Location:INTRON

Gene Symbol:APC
Accession:NM_000038
Location:INTRON

Gene Symbol:APC
Accession:NM_001354903
Location:INTRON

Gene Symbol:APC
Accession:NM_001407469
Location:INTRON

Gene Symbol:APC
Accession:NM_001407459
Location:INTRON

Gene Symbol:APC
Accession:NM_001407467
Location:INTRON

Gene Symbol:APC
Accession:NM_001354904
Location:INTRON

Gene Symbol:APC
Accession:NM_001354905
Location:INTRON

Gene Symbol:APC
Accession:NM_001354898
Location:INTRON

Gene Symbol:APC
Accession:NM_001354896
Location:INTRON

Gene Symbol:APC
Accession:NM_001354897
Location:INTRON

Gene Symbol:APC
Accession:NM_001407452
Location:INTRON

Gene Symbol:APC
Accession:NM_001354902
Location:INTRON

Gene Symbol:APC
Accession:NM_001407457
Location:INTRON

Gene Symbol:APC
Accession:NM_001407451
Location:INTRON

Gene Symbol:APC
Accession:NM_001407449
Location:INTRON

Gene Symbol:APC
Accession:NM_001407450
Location:INTRON

Gene Symbol:APC
Accession:NM_001407448
Location:INTRON

Gene Symbol:APC
Accession:NM_001354895
Location:INTRON

Gene Symbol:APC
Accession:NM_001354900
Location:INTRON

Gene Symbol:APC
Accession:NM_001407447
Location:INTRON

Gene Symbol:APC
Accession:NM_001407460
Location:INTRON

Gene Symbol:APC
Accession:NM_001407455
Location:INTRON

Gene Symbol:APC
Accession:NM_001407446
Location:INTRON

Gene Symbol:APC
Accession:NM_001407458
Location:INTRON

Gene Symbol:APC
Accession:NM_001127510
Location:INTRON

Gene Symbol:APC
Accession:NM_001354899
Location:INTRON

Gene Symbol:APC
Accession:NM_001354901
Location:INTRON

Gene Symbol:APC
Accession:NM_001407453
Location:INTRON

Gene Symbol:APC
Accession:NM_001407454
Location:INTRON

Gene Symbol:APC
Accession:NM_001407456
Location:INTRON

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

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

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001179898 CLINVAR
dbSNP (RS) rs1757577291 CLINVAR
MedGen C0027672 CLINVAR
NCBI Gene APC CLINVAR
OMIM 611731 CLINVAR
SNOMED CT 699346009 CLINVAR