RGD:156392553 Rat Genome Database

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Variant: RGD:156392553 -  Homo sapiens

RGD ID: 156392553
ClinVar ID: CV2386476
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLDN34  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 9,935,569
GRCh38 X 9,967,529
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_001182010.1:p.Cys58Arg
NM_001195081.2:c.172T>C
NC_000023.11:g.9967529T>C
NC_000023.10:g.9935569T>C
More... 		08/16/2021 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:CLDN34
Accession:NM_001195081
Location:EXON
Amino Acid Prediction: C to R (nonsynonymous)
Amino Acid Position: 58
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVWFCNSADCQFSVFALTTIGWILSSTSTGLVEWRIWYMKDTSLYPPGIACVGIFRVRIYRRRTNSTTTKFCYRYSYQDT
FLPFEISMAQRFLLTASIFGFFGRAFNMFALRNMSMRMFEEDTYNSFVVSGILNIAAGVFNLIAVLQNYDAVINSQGITF
LPSLQMPFKPDVQEVGTAIQVAGIGVLPMLLTGMFSLFYKCPPYGQVHPGISEM*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004230842 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene CLDN34 CLINVAR