RGD:329349447 Rat Genome Database

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Variant: RGD:329349447 -  Homo sapiens

RGD ID: 329349447
ClinVar ID: CV2434587
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CELA2A  LOC105376767  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 15,792,568
GRCh38 1 15,466,073
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_033440.3:c.568G>A
NC_000001.11:g.15466073G>A
NC_000001.10:g.15792568G>A
NM_033440.2:c.568G>A
More... 		02/08/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:CELA2A
Accession:NM_033440
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 190
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MIRTLLLSTLVAGALSCGDPTYPPYVTRVVGGEEARPNSWPWQVSLQYSSNGKWYHTCGGSLIANSWVLTAAHCISSSRT
YRVGLGRHNLYVAESGSLAVSVSKIVVHKDWNSNQISKGNDIALLKLANPVSLTDKIQLACLPPAGTILPNNYPCYVTGW
GRLQTNGAVPDVLQQGRLLVVDYATCSSSTWWGSSVKTSMICAGGDGVISSCNGDSGGPLNCQASDGRWQVHGIVSFGSR
LGCNYYHKPSVFTRVSNYIDWINSVIANN*

Gene Symbol:LOC105376767
Accession:XR_002958256
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004254285 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene CELA2A CLINVAR
OMIM 609443 CLINVAR