RGD:329400336 Rat Genome Database

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Variant: RGD:329400336 -  Homo sapiens

RGD ID: 329400336
ClinVar ID: CV2441523
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PRSS58  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 141,952,303
GRCh38 7 142,252,483
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001001317.5:c.565C>A
NG_001333.2:g.45024G>T
NC_000007.14:g.142252483G>T
NC_000007.13:g.141952303G>T
More... 		01/18/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:PRSS58
Accession:NM_001001317
Location:EXON
Amino Acid Prediction: Q to K (nonsynonymous)
Amino Acid Position: 189
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKFILLWALLNLTVALAFNPDYTVSSTPPYLVYLKSDYLPCAGVLIHPLWVITAAHCNLPKLRVILGVTIPADSNEKHLQ
VIGYEKMIHHPHFSVTSIDHDIMLIKLKTEAELNDYVKLANLPYQTISENTMCSVSTWSYNVCDIYKEPDSLQTVNISVI
SKPQCRDAYKTYNITENMLCVGIVPGRRKPCKEVSAAPAICNGMLQGILSFADGCVLRADVGIYAKIFYYIPWIENVIQN
N*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004257310 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene PRSS58 CLINVAR