RGD:14721289 Rat Genome Database

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Variant: RGD:14721289 -  Homo sapiens

RGD ID: 14721289
RS ID: rs549579183
ClinVar ID: CV644836
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDH1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 16 68,846,108
GRCh38 16 68,812,205
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_301t1:c.1079C>G
NM_001317185.2:c.-537C>G
NM_001317186.2:c.-741C>G
NM_001317184.2:c.1079C>G
More... 		08/10/2018 5 prime utr variant uncertain significance Breast cancer, familial; Hereditary diffuse gastric cancer
Disease Annotations     Click to see Annotation Detail View


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: T to R (nonsynonymous)
Amino Acid Position: 360
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGPWSRSLSALLLLLQVSSWLCQEPEPCHPGFDAESYTFTVPRRHLERGRVLGRVNFEDCTGRQRTAYFSLDTRFKVGTD
GVITVKRPLRFHNPQIHFLVYAWDSTYRKFSTKVTLNTVGHHHRPPPHQASVSGIQAELLTFPNSSPGLRRQKRDWVIPP
ISCPENEKGPFPKNLVQIKSNKDKEGKVFYSITGQGADTPPVGVFIIERETGWLKVTEPLDRERIATYTLFSHAVSSNGN
AVEDPMEILITVTDQNDNKPEFTQEVFKGSVMEGALPGTSVMEVTATDADDDVNTYNAAIAYTILSQDPELPDKNMFTIN
RNTGVISVVTTGLDRESFPTYTLVVQAADLQGEGLSTTARAVITVTDTNDNPPIFNPTTGLDFEAKQQYILHVAVTNVVP
FEVSLTTSTATVTVDVLDVNEAPIFVPPEKRVEVSEDFGVGQEITSYTAQEPDTFMEQKITYRIWRDTANWLEINPDTGA
ISTRAELDREDFEHVKNSTYTALIIATDNGSPVATGTGTLLLILSDVNDNAPIPEPRTIFFCERNPKPQVINIIDADLPP
NTSPFTAELTHGASANWTIQYNDPTQESIILKPKMALEVGDYKINLKLMDNQNKDQVTTLEVSVCDCEGAAGVCRKAQPV
EAGLQIPAILGILGGILALLILILLLLLFLRRRAVVKEPLLPPEDDTRDNVYYYDEEGGGEEDQDFDLSQLHRGLDARPE
VTRNDVAPTLMSVPRYLPRPANPDEIGNFIDENLKAADTDPTAPPYDSLLVFDYEGSGSEAASLSSLNSSESDKDQDYDY
LNEWGNRFKKLADMYGGGEDD*

Gene Symbol:CDH1
Accession:NM_004360
Location:EXON
Amino Acid Prediction: T to R (nonsynonymous)
Amino Acid Position: 360
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGPWSRSLSALLLLLQVSSWLCQEPEPCHPGFDAESYTFTVPRRHLERGRVLGRVNFEDCTGRQRTAYFSLDTRFKVGTD
GVITVKRPLRFHNPQIHFLVYAWDSTYRKFSTKVTLNTVGHHHRPPPHQASVSGIQAELLTFPNSSPGLRRQKRDWVIPP
ISCPENEKGPFPKNLVQIKSNKDKEGKVFYSITGQGADTPPVGVFIIERETGWLKVTEPLDRERIATYTLFSHAVSSNGN
AVEDPMEILITVTDQNDNKPEFTQEVFKGSVMEGALPGTSVMEVTATDADDDVNTYNAAIAYTILSQDPELPDKNMFTIN
RNTGVISVVTTGLDRESFPTYTLVVQAADLQGEGLSTTARAVITVTDTNDNPPIFNPTTYKGQVPENEANVVITTLKVTD
ADAPNTPAWEAVYTILNDDGGQFVVTTNPVNNDGILKTAKGLDFEAKQQYILHVAVTNVVPFEVSLTTSTATVTVDVLDV
NEAPIFVPPEKRVEVSEDFGVGQEITSYTAQEPDTFMEQKITYRIWRDTANWLEINPDTGAISTRAELDREDFEHVKNST
YTALIIATDNGSPVATGTGTLLLILSDVNDNAPIPEPRTIFFCERNPKPQVINIIDADLPPNTSPFTAELTHGASANWTI
QYNDPTQESIILKPKMALEVGDYKINLKLMDNQNKDQVTTLEVSVCDCEGAAGVCRKAQPVEAGLQIPAILGILGGILAL
LILILLLLLFLRRRAVVKEPLLPPEDDTRDNVYYYDEEGGGEEDQDFDLSQLHRGLDARPEVTRNDVAPTLMSVPRYLPR
PANPDEIGNFIDENLKAADTDPTAPPYDSLLVFDYEGSGSEAASLSSLNSSESDKDQDYDYLNEWGNRFKKLADMYGGGE
DD*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000797038 CLINVAR
  RCV003461093 CLINVAR
dbSNP (RS) rs549579183 CLINVAR
MedGen C0346153 CLINVAR
  C1708349 CLINVAR
NCBI Gene CDH1 CLINVAR
OMIM 114480 CLINVAR
  137215 CLINVAR
  192090 CLINVAR
SNOMED CT 254843006 CLINVAR