RGD:155927122 Rat Genome Database

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Variant: RGD:155927122 -  Homo sapiens

RGD ID: 155927122
ClinVar ID: CV2365877
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PRSS50  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 46,754,539
GRCh38 3 46,713,049
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_013270.5:c.773G>A
NC_000003.12:g.46713049C>T
NC_000003.11:g.46754539C>T
NM_013270.4:c.773G>A
More... 		08/30/2022 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PRSS50
Accession:NM_013270
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 258
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRWCQTVARGQRPRTSAPSRAGALLLLLLLLRSAGCWGAGEAPGALSTADPADQSVQCVPKATCPSSRPRLLWQTPTTQ
TLPSTTMETQFPVSEGKVDPYRSCGFSYEQDPTLRDPEAVARRWPWMVSVRANGTHICAGTIIASQWVLTVAHCLIWRDV
IYSVRVGSPWIDQMTQTASDVPVLQVIMHSRYRAQRFWSWVGQANDIGLLKLKQELKYSNYVRPICLPGTDYVLKDHSRC
TVTGWGLSKADGMWPQFQTIQEKEVIILNNKECDNFYHNFTKIPTLVQIIKSQMMCAEDTHREKFCYELTGEPLVCSMEG
TWYLVGLVSWGAGCQKSEAPPIYLQVSSYQHWIWDCLNGQALALPAPSRTLLLALPLPLSLLAAL*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002992765 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene PRSS50 CLINVAR
OMIM 607950 CLINVAR