RGD:9834306 Rat Genome Database

Variant: RGD:9834306 - Homo sapiens

RGD ID:

9834306

RS ID:

rs730881667

ClinVar ID:

CV180780

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

CDH1

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	16	68,853,227
GRCh38	16	68,819,324

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	Age of Onset	Prevalence	Trait Synonyms
LRG_301t1:c.1610C>T LRG_301:g.87033C>T NG_008021.1:g.87033C>T NC_000016.10:g.68819324C>T More...	06/05/2023	intron variant\|missense variant	conflicting interpretations of pathogenicity\|uncertain significance	adult	1-9 / 100 000	Cancer predisposition; Colon carcinoma; Colonic carcinoma; Hereditary Cancer Syndrome; Hereditary diffuse gastric cancer; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; none provided; Tumor predisposition

Disease Annotations Click to see Annotation Detail View

colon carcinoma (IAGP)

hereditary diffuse gastric cancer (IAGP)

Hereditary Neoplastic Syndromes (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Colon cancer (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	CDH1
Accession:	NM_001317186
Location:	5UTRS;INTRON

Gene Symbol:	CDH1
Accession:	NM_001317185
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	21

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEQKITYRIWRDTANWLEINLDTGAISTRAELDREDFEHVKNSTYTALIIATDNGSPVATGTGTLLLILSDVNDNAPIPE PRTIFFCERNPKPQVINIIDADLPPNTSPFTAELTHGASANWTIQYNDPTQESIILKPKMALEVGDYKINLKLMDNQNKD QVTTLEVSVCDCEGAAGVCRKAQPVEAGLQIPAILGILGGILALLILILLLLLFLRRRAVVKEPLLPPEDDTRDNVYYYD EEGGGEEDQDFDLSQLHRGLDARPEVTRNDVAPTLMSVPRYLPRPANPDEIGNFIDENLKAADTDPTAPPYDSLLVFDYE GSGSEAASLSSLNSSESDKDQDYDYLNEWGNRFKKLADMYGGGEDD*

Gene Symbol:	CDH1
Accession:	NM_004360
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	537

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGPWSRSLSALLLLLQVSSWLCQEPEPCHPGFDAESYTFTVPRRHLERGRVLGRVNFEDCTGRQRTAYFSLDTRFKVGTD GVITVKRPLRFHNPQIHFLVYAWDSTYRKFSTKVTLNTVGHHHRPPPHQASVSGIQAELLTFPNSSPGLRRQKRDWVIPP ISCPENEKGPFPKNLVQIKSNKDKEGKVFYSITGQGADTPPVGVFIIERETGWLKVTEPLDRERIATYTLFSHAVSSNGN AVEDPMEILITVTDQNDNKPEFTQEVFKGSVMEGALPGTSVMEVTATDADDDVNTYNAAIAYTILSQDPELPDKNMFTIN RNTGVISVVTTGLDRESFPTYTLVVQAADLQGEGLSTTATAVITVTDTNDNPPIFNPTTYKGQVPENEANVVITTLKVTD ADAPNTPAWEAVYTILNDDGGQFVVTTNPVNNDGILKTAKGLDFEAKQQYILHVAVTNVVPFEVSLTTSTATVTVDVLDV NEAPIFVPPEKRVEVSEDFGVGQEITSYTAQEPDTFMEQKITYRIWRDTANWLEINLDTGAISTRAELDREDFEHVKNST YTALIIATDNGSPVATGTGTLLLILSDVNDNAPIPEPRTIFFCERNPKPQVINIIDADLPPNTSPFTAELTHGASANWTI QYNDPTQESIILKPKMALEVGDYKINLKLMDNQNKDQVTTLEVSVCDCEGAAGVCRKAQPVEAGLQIPAILGILGGILAL LILILLLLLFLRRRAVVKEPLLPPEDDTRDNVYYYDEEGGGEEDQDFDLSQLHRGLDARPEVTRNDVAPTLMSVPRYLPR PANPDEIGNFIDENLKAADTDPTAPPYDSLLVFDYEGSGSEAASLSSLNSSESDKDQDYDYLNEWGNRFKKLADMYGGGE DD*

Gene Symbol:	CDH1
Accession:	NM_001317184
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	476

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGPWSRSLSALLLLLQVSSWLCQEPEPCHPGFDAESYTFTVPRRHLERGRVLGRVNFEDCTGRQRTAYFSLDTRFKVGTD GVITVKRPLRFHNPQIHFLVYAWDSTYRKFSTKVTLNTVGHHHRPPPHQASVSGIQAELLTFPNSSPGLRRQKRDWVIPP ISCPENEKGPFPKNLVQIKSNKDKEGKVFYSITGQGADTPPVGVFIIERETGWLKVTEPLDRERIATYTLFSHAVSSNGN AVEDPMEILITVTDQNDNKPEFTQEVFKGSVMEGALPGTSVMEVTATDADDDVNTYNAAIAYTILSQDPELPDKNMFTIN RNTGVISVVTTGLDRESFPTYTLVVQAADLQGEGLSTTATAVITVTDTNDNPPIFNPTTGLDFEAKQQYILHVAVTNVVP FEVSLTTSTATVTVDVLDVNEAPIFVPPEKRVEVSEDFGVGQEITSYTAQEPDTFMEQKITYRIWRDTANWLEINLDTGA ISTRAELDREDFEHVKNSTYTALIIATDNGSPVATGTGTLLLILSDVNDNAPIPEPRTIFFCERNPKPQVINIIDADLPP NTSPFTAELTHGASANWTIQYNDPTQESIILKPKMALEVGDYKINLKLMDNQNKDQVTTLEVSVCDCEGAAGVCRKAQPV EAGLQIPAILGILGGILALLILILLLLLFLRRRAVVKEPLLPPEDDTRDNVYYYDEEGGGEEDQDFDLSQLHRGLDARPE VTRNDVAPTLMSVPRYLPRPANPDEIGNFIDENLKAADTDPTAPPYDSLLVFDYEGSGSEAASLSSLNSSESDKDQDYDY LNEWGNRFKKLADMYGGGEDD*

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:25583476	PMID:25741868	PMID:28492532	PMID:30287823

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000160393	CLINVAR
	RCV000212373	CLINVAR
	RCV000234355	CLINVAR
	RCV001356277	CLINVAR
dbSNP (RS)	rs730881667	CLINVAR
MedGen	C0027672	CLINVAR
	C0699790	CLINVAR
	C1708349	CLINVAR
	C3661900	CLINVAR
NCBI Gene	CDH1	CLINVAR
OMIM	137215	CLINVAR
	192090	CLINVAR
SNOMED CT	269533000	CLINVAR
	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)

Variant: RGD:9834306 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Variant: RGD:9834306 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar