RGD:8698498 Rat Genome Database

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Variant: RGD:8698498 -  Homo sapiens

RGD ID: 8698498
RS ID: rs587782798
ClinVar ID: CV152602
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDH1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 68,847,225
GRCh38 16 68,813,322
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_301t1:c.1147C>T
LRG_301:g.81031C>T
NG_008021.1:g.81031C>T
NC_000016.10:g.68813322C>T
More... 		08/01/2022 5 prime utr variant|intron variant|nonsense pathogenic 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; 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_004360
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 383
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGPWSRSLSALLLLLQVSSWLCQEPEPCHPGFDAESYTFTVPRRHLERGRVLGRVNFEDCTGRQRTAYFSLDTRFKVGTD
GVITVKRPLRFHNPQIHFLVYAWDSTYRKFSTKVTLNTVGHHHRPPPHQASVSGIQAELLTFPNSSPGLRRQKRDWVIPP
ISCPENEKGPFPKNLVQIKSNKDKEGKVFYSITGQGADTPPVGVFIIERETGWLKVTEPLDRERIATYTLFSHAVSSNGN
AVEDPMEILITVTDQNDNKPEFTQEVFKGSVMEGALPGTSVMEVTATDADDDVNTYNAAIAYTILSQDPELPDKNMFTIN
RNTGVISVVTTGLDRESFPTYTLVVQAADLQGEGLSTTATAVITVTDTNDNPPIFNPTTYKG*VPENEANVVITTLKVTD
ADAPNTPAWEAVYTILNDDGGQFVVTTNPVNNDGILKTAKGLDFEAKQQYILHVAVTNVVPFEVSLTTSTATVTVDVLDV
NEAPIFVPPEKRVEVSEDFGVGQEITSYTAQEPDTFMEQKITYRIWRDTANWLEINPDTGAISTRAELDREDFEHVKNST
YTALIIATDNGSPVATGTGTLLLILSDVNDNAPIPEPRTIFFCERNPKPQVINIIDADLPPNTSPFTAELTHGASANWTI
QYNDPTQESIILKPKMALEVGDYKINLKLMDNQNKDQVTTLEVSVCDCEGAAGVCRKAQPVEAGLQIPAILGILGGILAL
LILILLLLLFLRRRAVVKEPLLPPEDDTRDNVYYYDEEGGGEEDQDFDLSQLHRGLDARPEVTRNDVAPTLMSVPRYLPR
PANPDEIGNFIDENLKAADTDPTAPPYDSLLVFDYEGSGSEAASLSSLNSSESDKDQDYDYLNEWGNRFKKLADMYGGGE
DD*

Gene Symbol:CDH1
Accession:NM_001317184
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:15235021   PMID:20373070   PMID:23709761   PMID:25741868   PMID:28492532   PMID:30311375   PMID:36436516  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000132351 CLINVAR
  RCV000763385 CLINVAR
  RCV000991081 CLINVAR
  RCV003328234 CLINVAR
dbSNP (RS) rs587782798 CLINVAR
MedGen C0027672 CLINVAR
  C0346153 CLINVAR
  C1708349 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