RGD:11643461 Rat Genome Database

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Variant: RGD:11643461 -  Homo sapiens

RGD ID: 11643461
RS ID: rs145197251
ClinVar ID: CV273436
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLDN1  CLDN16  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 3 190,039,801
GRCh38 3 190,322,012
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_021418.1:g.5435A>G
NC_000003.12:g.190322012T>C
NC_000003.11:g.190039801T>C
NP_066924.1:p.Lys65=
More... 		07/17/2020 synonymous variant likely benign|conflicting interpretations of pathogenicity|uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CLDN16
Accession:NM_001378492
Location:5UTRS;INTRON

Gene Symbol:CLDN16
Accession:NM_001378493
Location:5UTRS;INTRON

Gene Symbol:CLDN1
Accession:NM_021101
Location:EXON
Amino Acid Prediction: K to K (synonymous)
Amino Acid Position: 65
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MANAGLQLLGFILAFLGWIGAIVSTALPQWRIYSYAGDNIVTAQAMYEGLWMSCVSQSTGQIQCKVFDSLLNLSSTLQAT
RALMVVGILLGVIAIFVATVGMKCMKCLEDDEVQKMRMAVIGGAIFLLAGLAILVATAWYGNRIVQEFYDPMTPVNARYE
FGQALFTGWAAASLCLLGGALLCCSCPRKTTSYPTPRPYPKPAPSSGKDYV*

Gene Symbol:CLDN16
Accession:NM_006580
Location:INTRON

Gene Symbol:CLDN16
Accession:XM_047447333
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000393229 CLINVAR
  RCV003957502 CLINVAR
dbSNP (RS) rs145197251 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CLDN1 CLINVAR
  CLDN16 CLINVAR
OMIM 603718 CLINVAR
  603959 CLINVAR