RGD:401749524 Rat Genome Database

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Variant: RGD:401749524 -  Homo sapiens

RGD ID: 401749524
ClinVar ID: CV2719318
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PRSS50  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 46,755,840
GRCh38 3 46,714,350
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.622G>A
NC_000003.12:g.46714350C>T
NC_000003.11:g.46755840C>T
NM_013270.4:c.622G>A
More... 		06/01/2023 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: G to S (nonsynonymous)
Amino Acid Position: 208
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRWCQTVARGQRPRTSAPSRAGALLLLLLLLRSAGCWGAGEAPGALSTADPADQSVQCVPKATCPSSRPRLLWQTPTTQ
TLPSTTMETQFPVSEGKVDPYRSCGFSYEQDPTLRDPEAVARRWPWMVSVRANGTHICAGTIIASQWVLTVAHCLIWRDV
IYSVRVGSPWIDQMTQTASDVPVLQVIMHSRYRAQRFWSWVGQANDISLLKLKQELKYSNYVRPICLPGTDYVLKDHSRC
TVTGWGLSKADGMWPQFRTIQEKEVIILNNKECDNFYHNFTKIPTLVQIIKSQMMCAEDTHREKFCYELTGEPLVCSMEG
TWYLVGLVSWGAGCQKSEAPPIYLQVSSYQHWIWDCLNGQALALPAPSRTLLLALPLPLSLLAAL*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003294908 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene PRSS50 CLINVAR
OMIM 607950 CLINVAR