RGD:12845593 Rat Genome Database

Variant: RGD:12845593 - Homo sapiens

RGD ID:

12845593

RS ID:

rs573528468

ClinVar ID:

CV368041

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

APC

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	5	112,151,295
GRCh38	5	112,815,598

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001354900.2:c.756+5C>T NM_001354901.2:c.756+5C>T NM_001354905.2:c.756+5C>T NM_001354906.2:c.84+5C>T More...	10/15/2019	intron variant	likely benign\|uncertain significance	AllHighlyPenetrant; APC-Associated Polyposis Conditions; Cancer predisposition; FAMILIAL ADENOMATOUS POLYPOSIS 1, ATTENUATED; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; none provided; POLYPOSIS, ADENOMATOUS INTESTINAL; Tumor predisposition

Disease Annotations Click to see Annotation Detail View

familial adenomatous polyposis (IAGP)

familial adenomatous polyposis 1 (IAGP)

Hereditary Neoplastic Syndromes (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	APC
Accession:	NM_001407453
Location:	INTRON

Gene Symbol:	APC
Accession:	NM_001354901
Location:	INTRON

Gene Symbol:	APC
Accession:	NM_001407460
Location:	INTRON

Gene Symbol:	APC
Accession:	NM_001407459
Location:	INTRON

Gene Symbol:	APC
Accession:	NM_001354898
Location:	INTRON

Gene Symbol:	APC
Accession:	NM_001354900
Location:	INTRON

Gene Symbol:	APC
Accession:	NM_001407454
Location:	INTRON

Gene Symbol:	APC
Accession:	NM_001407467
Location:	INTRON

Gene Symbol:	APC
Accession:	NM_001354895
Location:	INTRON

Gene Symbol:	APC
Accession:	NM_001407456
Location:	INTRON

Gene Symbol:	APC
Accession:	NM_001407450
Location:	INTRON

Gene Symbol:	APC
Accession:	NM_001354904
Location:	INTRON

Gene Symbol:	APC
Accession:	NM_001354905
Location:	INTRON

Gene Symbol:	APC
Accession:	NM_001407448
Location:	INTRON

Gene Symbol:	APC
Accession:	NM_001407449
Location:	INTRON

Gene Symbol:	APC
Accession:	NM_001407451
Location:	INTRON

Gene Symbol:	APC
Accession:	NM_001127510
Location:	INTRON

Gene Symbol:	APC
Accession:	NM_001354902
Location:	INTRON

Gene Symbol:	APC
Accession:	NM_001354906
Location:	INTRON

Gene Symbol:	APC
Accession:	NM_001407446
Location:	INTRON

Gene Symbol:	APC
Accession:	NM_001127511
Location:	INTRON

Gene Symbol:	APC
Accession:	NM_001354903
Location:	INTRON

Gene Symbol:	APC
Accession:	NM_001407469
Location:	INTRON

Gene Symbol:	APC
Accession:	NM_001407471
Location:	INTRON

Gene Symbol:	APC
Accession:	NM_001354897
Location:	INTRON

Gene Symbol:	APC
Accession:	NM_001354896
Location:	INTRON

Gene Symbol:	APC
Accession:	NM_001407447
Location:	INTRON

Gene Symbol:	APC
Accession:	NM_001407458
Location:	INTRON

Gene Symbol:	APC
Accession:	NM_001354899
Location:	INTRON

Gene Symbol:	APC
Accession:	NM_000038
Location:	INTRON

Gene Symbol:	APC
Accession:	NM_001407472
Location:	INTRON

Gene Symbol:	APC
Accession:	NM_001407452
Location:	INTRON

Gene Symbol:	APC
Accession:	NM_001407455
Location:	INTRON

Gene Symbol:	APC
Accession:	NM_001407470
Location:	INTRON

Gene Symbol:	APC
Accession:	NM_001407457
Location:	INTRON

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

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

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:15459959	PMID:25741868	PMID:26467025	PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000440101	CLINVAR
	RCV000582859	CLINVAR
	RCV000985327	CLINVAR
	RCV003743716	CLINVAR
	RCV003942408	CLINVAR
dbSNP (RS)	rs573528468	CLINVAR
MedGen	C0027672	CLINVAR
	C2713442	CLINVAR
	C3661900	CLINVAR
	CN169374	CLINVAR
NCBI Gene	APC	CLINVAR
OMIM	175100	CLINVAR
	611731	CLINVAR
SNOMED CT	699346009	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Variant: RGD:12845593 - Homo sapiens

Imported Disease Annotations - ClinVar