RGD:11544858 Rat Genome Database

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Variant: RGD:11544858 -  Homo sapiens

RGD ID: 11544858
RS ID: rs72466472
ClinVar ID: CV251065
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLDN1  CLDN16  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 190,039,888
GRCh38 3 190,322,099
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.5348C>T
NC_000003.12:g.190322099G>A
NC_000003.11:g.190039888G>A
NP_066924.1:p.Ala36=
More... 		synonymous variant benign AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:CLDN16
Accession:NM_001378493
Location:5UTRS;INTRON

Gene Symbol:CLDN16
Accession:NM_001378492
Location:5UTRS;INTRON

Gene Symbol:CLDN1
Accession:NM_021101
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 36
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 RCV000244356 CLINVAR
  RCV002058306 CLINVAR
dbSNP (RS) rs72466472 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene CLDN1 CLINVAR
  CLDN16 CLINVAR
OMIM 603718 CLINVAR
  603959 CLINVAR