RGD:12899268 Rat Genome Database

Variant: RGD:12899268 - Homo sapiens

RGD ID:

12899268

RS ID:

rs776975632

ClinVar ID:

CV409709

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

CDH1

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	16	68,862,157
GRCh38	16	68,828,254

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
LRG_301:g.95963C>T NG_008021.1:g.95963C>T NC_000016.10:g.68828254C>T NC_000016.9:g.68862157C>T More...	10/24/2022	missense variant	conflicting interpretations of pathogenicity\|uncertain significance	Cancer breast; Cancer predisposition; CDH1-related diffuse gastric and lobular breast cancer; Hereditary Cancer Syndrome; Hereditary diffuse gastric cancer; Hereditary neoplastic syndrome; Malignant breast neoplasm; Neoplastic Syndromes, Hereditary; none provided; Tumor predisposition

Disease Annotations Click to see Annotation Detail View

breast cancer (IAGP)

hereditary diffuse gastric cancer (IAGP)

Hereditary Neoplastic Syndromes (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Breast carcinoma (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	CDH1
Accession:	NM_001317184
Location:	EXON
Amino Acid Prediction:	R to W (nonsynonymous)
Amino Acid Position:	688

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

Gene Symbol:	CDH1
Accession:	NM_001317186
Location:	EXON
Amino Acid Prediction:	R to W (nonsynonymous)
Amino Acid Position:	94

Amino Acid Sequence (Calculated using NCBI transcript definition)
MALEVGDYKINLKLMDNQNKDQVTTLEVSVCDCEGAAGVCRKAQPVEAGLQIPAILGILGGILALLILILLLLLFLRRRA VVKEPLLPPEDDTWDNVYYYDEEGGGEEDQDFDLSQLHRGLDARPEVTRNDVAPTLMSVPRYLPRPANPDEIGNFIDENL KAADTDPTAPPYDSLLVFDYEGSGSEAASLSSLNSSESDKDQDYDYLNEWGNRFKKLADMYGGGEDD*

Gene Symbol:	CDH1
Accession:	NM_004360
Location:	EXON
Amino Acid Prediction:	R to W (nonsynonymous)
Amino Acid Position:	749

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

Gene Symbol:	CDH1
Accession:	NM_001317185
Location:	EXON
Amino Acid Prediction:	R to W (nonsynonymous)
Amino Acid Position:	233

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEQKITYRIWRDTANWLEINPDTGAISTRAELDREDFEHVKNSTYTALIIATDNGSPVATGTGTLLLILSDVNDNAPIPE PRTIFFCERNPKPQVINIIDADLPPNTSPFTAELTHGASANWTIQYNDPTQESIILKPKMALEVGDYKINLKLMDNQNKD QVTTLEVSVCDCEGAAGVCRKAQPVEAGLQIPAILGILGGILALLILILLLLLFLRRRAVVKEPLLPPEDDTWDNVYYYD EEGGGEEDQDFDLSQLHRGLDARPEVTRNDVAPTLMSVPRYLPRPANPDEIGNFIDENLKAADTDPTAPPYDSLLVFDYE GSGSEAASLSSLNSSESDKDQDYDYLNEWGNRFKKLADMYGGGEDD*

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:17545690	PMID:18772194	PMID:19268661	PMID:19725995	PMID:21853084	PMID:22850631	PMID:25388006	PMID:25741868	PMID:26467025	PMID:27151223	PMID:28492532	PMID:34486077

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000479819	CLINVAR
	RCV000663000	CLINVAR
	RCV000774774	CLINVAR
	RCV001355065	CLINVAR
	RCV003328355	CLINVAR
dbSNP (RS)	rs776975632	CLINVAR
MedGen	C0006142	CLINVAR
	C0027672	CLINVAR
	C1708349	CLINVAR
	C3661900	CLINVAR
	CN311521	CLINVAR
NCBI Gene	CDH1	CLINVAR
OMIM	137215	CLINVAR
	192090	CLINVAR
SNOMED CT	254837009	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:12899268 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Variant: RGD:12899268 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar