RGD:8658337 Rat Genome Database

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Variant: RGD:8658337 -  Homo sapiens

RGD ID: 8658337
RS ID: rs372838203
ClinVar ID: CV133363
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDH1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 68,847,240
GRCh38 16 68,813,337
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
NM_004360.5:c.1162G>A
LRG_301t1:c.1162G>A
LRG_301:g.81046G>A
NG_008021.1:g.81046G>A
More...
08/22/2022 5 prime utr variant|intron variant|missense variant pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided adult 1-9 / 100 000 AllHighlyPenetrant; Cancer predisposition; CDH1-related diffuse gastric and lobular breast cancer; 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


Variant Details
Variant Transcripts
Gene Symbol:CDH1
Accession:NM_001317185
Location:5UTRS;EXON

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

Gene Symbol:CDH1
Accession:NM_004360
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 388
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGPWSRSLSALLLLLQVSSWLCQEPEPCHPGFDAESYTFTVPRRHLERGRVLGRVNFEDCTGRQRTAYFSLDTRFKVGTD
GVITVKRPLRFHNPQIHFLVYAWDSTYRKFSTKVTLNTVGHHHRPPPHQASVSGIQAELLTFPNSSPGLRRQKRDWVIPP
ISCPENEKGPFPKNLVQIKSNKDKEGKVFYSITGQGADTPPVGVFIIERETGWLKVTEPLDRERIATYTLFSHAVSSNGN
AVEDPMEILITVTDQNDNKPEFTQEVFKGSVMEGALPGTSVMEVTATDADDDVNTYNAAIAYTILSQDPELPDKNMFTIN
RNTGVISVVTTGLDRESFPTYTLVVQAADLQGEGLSTTATAVITVTDTNDNPPIFNPTTYKGQVPENKANVVITTLKVTD
ADAPNTPAWEAVYTILNDDGGQFVVTTNPVNNDGILKTAKGLDFEAKQQYILHVAVTNVVPFEVSLTTSTATVTVDVLDV
NEAPIFVPPEKRVEVSEDFGVGQEITSYTAQEPDTFMEQKITYRIWRDTANWLEINPDTGAISTRAELDREDFEHVKNST
YTALIIATDNGSPVATGTGTLLLILSDVNDNAPIPEPRTIFFCERNPKPQVINIIDADLPPNTSPFTAELTHGASANWTI
QYNDPTQESIILKPKMALEVGDYKINLKLMDNQNKDQVTTLEVSVCDCEGAAGVCRKAQPVEAGLQIPAILGILGGILAL
LILILLLLLFLRRRAVVKEPLLPPEDDTRDNVYYYDEEGGGEEDQDFDLSQLHRGLDARPEVTRNDVAPTLMSVPRYLPR
PANPDEIGNFIDENLKAADTDPTAPPYDSLLVFDYEGSGSEAASLSSLNSSESDKDQDYDYLNEWGNRFKKLADMYGGGE
DD*

Gene Symbol:CDH1
Accession:NM_001317184
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:24728327   PMID:25326637   PMID:25741868   PMID:26467025   PMID:28492532   PMID:28569743   PMID:30287823   PMID:30311375   PMID:30982232   PMID:33471991  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000115834 CLINVAR
  RCV000120514 CLINVAR
  RCV000196601 CLINVAR
  RCV000196604 CLINVAR
  RCV000656820 CLINVAR
  RCV003328164 CLINVAR
dbSNP (RS) rs372838203 CLINVAR
MedGen C0027672 CLINVAR
  C1708349 CLINVAR
  C1842127 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
  CN311521 CLINVAR
NCBI Gene CDH1 CLINVAR
OMIM 137215 CLINVAR
  192090 CLINVAR
  608380 CLINVAR
  608381 CLINVAR
SNOMED CT 699346009 CLINVAR