RGD:405686502 Rat Genome Database

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Variant: RGD:405686502 -  Homo sapiens

RGD ID: 405686502
ClinVar ID: CV3306638
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLDN34  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 9,936,019
GRCh38 X 9,967,979
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001195081.2:c.622C>T
NC_000023.11:g.9967979C>T
NC_000023.10:g.9936019C>T
NM_001195081.1:c.622C>T
More... 		10/12/2021 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:CLDN34
Accession:NM_001195081
Location:EXON
Amino Acid Prediction: H to Y (nonsynonymous)
Amino Acid Position: 208
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVWFCNSADCQFSVFALTTIGWILSSTSTGLVEWRIWYMKDTSLYPPGIACVGIFRVCIYRRRTNSTTTKFCYRYSYQDT
FLPFEISMAQRFLLTASIFGFFGRAFNMFALRNMSMRMFEEDTYNSFVVSGILNIAAGVFNLIAVLQNYDAVINSQGITF
LPSLQMPFKPDVQEVGTAIQVAGIGVLPMLLTGMFSLFYKCPPYGQVYPGISEM*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004444356 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene CLDN34 CLINVAR