RGD:9852122 Rat Genome Database

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Variant: RGD:9852122 -  Homo sapiens

RGD ID: 9852122
RS ID: rs773441320
ClinVar ID: CV184384
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDH1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 16 68,847,328
GRCh38 16 68,813,425
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_301t1:c.1250A>G
LRG_301:g.81134A>G
NG_008021.1:g.81134A>G
NC_000016.10:g.68813425A>G
More... 		11/18/2021 5 prime utr variant|intron variant|missense variant conflicting interpretations of pathogenicity|uncertain significance adult 1-9 / 100 000 AllHighlyPenetrant; Blepharocheilodontic syndrome 1; Breast cancer, familial; Cancer predisposition; 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_004360
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 417
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGPWSRSLSALLLLLQVSSWLCQEPEPCHPGFDAESYTFTVPRRHLERGRVLGRVNFEDCTGRQRTAYFSLDTRFKVGTD
GVITVKRPLRFHNPQIHFLVYAWDSTYRKFSTKVTLNTVGHHHRPPPHQASVSGIQAELLTFPNSSPGLRRQKRDWVIPP
ISCPENEKGPFPKNLVQIKSNKDKEGKVFYSITGQGADTPPVGVFIIERETGWLKVTEPLDRERIATYTLFSHAVSSNGN
AVEDPMEILITVTDQNDNKPEFTQEVFKGSVMEGALPGTSVMEVTATDADDDVNTYNAAIAYTILSQDPELPDKNMFTIN
RNTGVISVVTTGLDRESFPTYTLVVQAADLQGEGLSTTATAVITVTDTNDNPPIFNPTTYKGQVPENEANVVITTLKVTD
ADAPNTPAWEAVYTILSDDGGQFVVTTNPVNNDGILKTAKGLDFEAKQQYILHVAVTNVVPFEVSLTTSTATVTVDVLDV
NEAPIFVPPEKRVEVSEDFGVGQEITSYTAQEPDTFMEQKITYRIWRDTANWLEINPDTGAISTRAELDREDFEHVKNST
YTALIIATDNGSPVATGTGTLLLILSDVNDNAPIPEPRTIFFCERNPKPQVINIIDADLPPNTSPFTAELTHGASANWTI
QYNDPTQESIILKPKMALEVGDYKINLKLMDNQNKDQVTTLEVSVCDCEGAAGVCRKAQPVEAGLQIPAILGILGGILAL
LILILLLLLFLRRRAVVKEPLLPPEDDTRDNVYYYDEEGGGEEDQDFDLSQLHRGLDARPEVTRNDVAPTLMSVPRYLPR
PANPDEIGNFIDENLKAADTDPTAPPYDSLLVFDYEGSGSEAASLSSLNSSESDKDQDYDYLNEWGNRFKKLADMYGGGE
DD*

Gene Symbol:CDH1
Accession:NM_001317184
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:26467025   PMID:28492532   PMID:30311375   PMID:36436516  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000164676 CLINVAR
  RCV000196904 CLINVAR
  RCV000484306 CLINVAR
  RCV000765304 CLINVAR
  RCV000766705 CLINVAR
dbSNP (RS) rs773441320 CLINVAR
MedGen C0027672 CLINVAR
  C0346153 CLINVAR
  C1708349 CLINVAR
  C3661900 CLINVAR
  CN169374 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