RGD:405686507 Rat Genome Database

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Variant: RGD:405686507 -  Homo sapiens

RGD ID: 405686507
ClinVar ID: CV3306637
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLDN34  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 9,935,647
GRCh38 X 9,967,607
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.250T>G
NC_000023.11:g.9967607T>G
NC_000023.10:g.9935647T>G
NM_001195081.1:c.250T>G
More... 		02/28/2024 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:CLDN34
Accession:NM_001195081
Location:EXON
Amino Acid Prediction: F to V (nonsynonymous)
Amino Acid Position: 84
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVWFCNSADCQFSVFALTTIGWILSSTSTGLVEWRIWYMKDTSLYPPGIACVGIFRVCIYRRRTNSTTTKFCYRYSYQDT
FLPVEISMAQRFLLTASIFGFFGRAFNMFALRNMSMRMFEEDTYNSFVVSGILNIAAGVFNLIAVLQNYDAVINSQGITF
LPSLQMPFKPDVQEVGTAIQVAGIGVLPMLLTGMFSLFYKCPPYGQVHPGISEM*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004444355 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene CLDN34 CLINVAR