RGD:11346183 Rat Genome Database

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Variant: RGD:11346183 -  Homo sapiens

RGD ID: 11346183
RS ID: rs876658932
ClinVar ID: CV242453
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDH1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 68,835,629
GRCh38 16 68,801,726
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_301:g.69435C>T
NG_008021.1:g.69435C>T
NC_000016.10:g.68801726C>T
NC_000016.9:g.68835629C>T
More... 		08/29/2023 5 prime utr variant|nonsense pathogenic adult 1-9 / 100 000 Blepharocheilodontic syndrome 1; Breast cancer, familial; Cancer predisposition; CDH1-related diffuse gastric and lobular breast cancer; Endometrial carcinoma; Endometrial carcinoma, somatic; Hereditary Cancer Syndrome; Hereditary diffuse gastric adenocarcinoma; Hereditary diffuse gastric cancer; Hereditary neoplastic syndrome; Malignant tumor of prostate; Neoplasm of ovary; Neoplastic Syndromes, Hereditary; none provided; OVARIAN CANCER, SOMATIC; Ovarian neoplasm; Ovarian Neoplasms; Ovarian tumor; Prostate cancer; Tumor predisposition
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:CDH1
Accession:NM_001317186
Location:5UTRS;EXON

Gene Symbol:CDH1
Accession:NM_001317185
Location:5UTRS;EXON

Gene Symbol:CDH1
Accession:NM_001317184
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 74
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGPWSRSLSALLLLLQVSSWLCQEPEPCHPGFDAESYTFTVPRRHLERGRVLGRVNFEDCTGRQRTAYFSLDT*FKVGTD
GVITVKRPLRFHNPQIHFLVYAWDSTYRKFSTKVTLNTVGHHHRPPPHQASVSGIQAELLTFPNSSPGLRRQKRDWVIPP
ISCPENEKGPFPKNLVQIKSNKDKEGKVFYSITGQGADTPPVGVFIIERETGWLKVTEPLDRERIATYTLFSHAVSSNGN
AVEDPMEILITVTDQNDNKPEFTQEVFKGSVMEGALPGTSVMEVTATDADDDVNTYNAAIAYTILSQDPELPDKNMFTIN
RNTGVISVVTTGLDRESFPTYTLVVQAADLQGEGLSTTATAVITVTDTNDNPPIFNPTTGLDFEAKQQYILHVAVTNVVP
FEVSLTTSTATVTVDVLDVNEAPIFVPPEKRVEVSEDFGVGQEITSYTAQEPDTFMEQKITYRIWRDTANWLEINPDTGA
ISTRAELDREDFEHVKNSTYTALIIATDNGSPVATGTGTLLLILSDVNDNAPIPEPRTIFFCERNPKPQVINIIDADLPP
NTSPFTAELTHGASANWTIQYNDPTQESIILKPKMALEVGDYKINLKLMDNQNKDQVTTLEVSVCDCEGAAGVCRKAQPV
EAGLQIPAILGILGGILALLILILLLLLFLRRRAVVKEPLLPPEDDTRDNVYYYDEEGGGEEDQDFDLSQLHRGLDARPE
VTRNDVAPTLMSVPRYLPRPANPDEIGNFIDENLKAADTDPTAPPYDSLLVFDYEGSGSEAASLSSLNSSESDKDQDYDY
LNEWGNRFKKLADMYGGGEDD*

Gene Symbol:CDH1
Accession:NM_004360
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 74
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGPWSRSLSALLLLLQVSSWLCQEPEPCHPGFDAESYTFTVPRRHLERGRVLGRVNFEDCTGRQRTAYFSLDT*FKVGTD
GVITVKRPLRFHNPQIHFLVYAWDSTYRKFSTKVTLNTVGHHHRPPPHQASVSGIQAELLTFPNSSPGLRRQKRDWVIPP
ISCPENEKGPFPKNLVQIKSNKDKEGKVFYSITGQGADTPPVGVFIIERETGWLKVTEPLDRERIATYTLFSHAVSSNGN
AVEDPMEILITVTDQNDNKPEFTQEVFKGSVMEGALPGTSVMEVTATDADDDVNTYNAAIAYTILSQDPELPDKNMFTIN
RNTGVISVVTTGLDRESFPTYTLVVQAADLQGEGLSTTATAVITVTDTNDNPPIFNPTTYKGQVPENEANVVITTLKVTD
ADAPNTPAWEAVYTILNDDGGQFVVTTNPVNNDGILKTAKGLDFEAKQQYILHVAVTNVVPFEVSLTTSTATVTVDVLDV
NEAPIFVPPEKRVEVSEDFGVGQEITSYTAQEPDTFMEQKITYRIWRDTANWLEINPDTGAISTRAELDREDFEHVKNST
YTALIIATDNGSPVATGTGTLLLILSDVNDNAPIPEPRTIFFCERNPKPQVINIIDADLPPNTSPFTAELTHGASANWTI
QYNDPTQESIILKPKMALEVGDYKINLKLMDNQNKDQVTTLEVSVCDCEGAAGVCRKAQPVEAGLQIPAILGILGGILAL
LILILLLLLFLRRRAVVKEPLLPPEDDTRDNVYYYDEEGGGEEDQDFDLSQLHRGLDARPEVTRNDVAPTLMSVPRYLPR
PANPDEIGNFIDENLKAADTDPTAPPYDSLLVFDYEGSGSEAASLSSLNSSESDKDQDYDYLNEWGNRFKKLADMYGGGE
DD*
Variant Samples
Additional References at PubMed
PMID:15235021   PMID:20373070   PMID:25123297   PMID:25741868   PMID:28492532   PMID:30287823   PMID:30311375   PMID:32842532   PMID:33471991   PMID:36436516  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000227616 CLINVAR
  RCV000567709 CLINVAR
  RCV000763384 CLINVAR
  RCV003223631 CLINVAR
  RCV003328305 CLINVAR
  RCV003475082 CLINVAR
dbSNP (RS) rs876658932 CLINVAR
MedGen C0027672 CLINVAR
  C0346153 CLINVAR
  C1708349 CLINVAR
  C3661900 CLINVAR
  CN311521 CLINVAR
NCBI Gene CDH1 CLINVAR
OMIM 114480 CLINVAR
  119580 CLINVAR
  137215 CLINVAR
  167000 CLINVAR
  176807 CLINVAR
  192090 CLINVAR
  608089 CLINVAR
SNOMED CT 254843006 CLINVAR
  699346009 CLINVAR