RGD:15171503 Rat Genome Database

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Variant: RGD:15171503 -  Homo sapiens

RGD ID: 15171503
RS ID: rs201766654
ClinVar ID: CV770894
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MEFV  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 16 3,304,724
GRCh38 16 3,254,724
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000243.3:c.344C>G
NP_000234.1:p.Pro115Arg
NM_000243.2:c.344C>G
LRG_190p1:p.Pro115Arg
More... 		11/18/2020 intron variant likely benign|conflicting interpretations of pathogenicity|uncertain significance Benign paroxysmal peritonitis; none provided; Periodic disease; Periodic peritonitis; POLYSEROSITIS, FAMILIAL PAROXYSMAL; POLYSEROSITIS, RECURRENT
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MEFV
Accession:NM_000243
Location:EXON
Amino Acid Prediction: P to R (nonsynonymous)
Amino Acid Position: 115
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAKTPSDHLLSTLEELVPYDFEKFKFKLQNTSVQKEHSRIPRSQIQRARPVKMATLLVTYYGEEYAVQLTLQVLRAINQR
LLAEELHRAAIQEYSTQENGTDDSAASSSLGENKRRSLKTPDHPEGNEGNGPRPYGGGAASLRCSQPEAGRGLSRKPLSK
RREKASEGLDAQGKPRTRSPALPGGRSPGPCRALEGGQAEVRLRRNASSAGRLQGLAGGAPGQKECRPFEVYLPSGKMRP
RSLEVTISTGEKAPANPEILLTLEEKTAANLDSATEPRARPTPDGGASADLKEGPGNPEHSVTGRPPDTAASPRCHAQEG
DPVDGTCVRDSCSFPEAVSGHPQASGSRSPGCPRCQDSHERKSPGSLSPQPLPQCKRHLKQVQLLFCEDHDEPICLICSL
SQEHQGHRVRPIEEVALEHKKKIQKQLEHLKKLRKSGEEQRSYGEEKAVSFLKQTEALKQRVQRKLEQVYYFLEQQEHFF
VASLEDVGQMVGQIRKAYDTRVSQDIALLDALIGELEAKECQSEWELLQDIGDILHRAKTVPVPEKWTTPQEIKQKIQLL
HQKSEFVEKSTKYFSETLRSEMEMFNVPELIGAQAHAVNVILDAETAYPNLIFSDDLKSVRLGNKWERLPDGPQRFDSCI
IVLGSPSFLSGRRYWEVEVGDKTAWILGACKTSISRKGNMTLSPENGYWVVIMMKENEYQASSVPPTRLLIKEPPKRVGI
FVDYRVGSISFYNVTARSHIYTFASCSFSGPLQPIFSPGTRDGGKNTAPLTICPVGGQGPD*

Gene Symbol:MEFV
Accession:NM_001198536
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:23847694   PMID:24950168   PMID:27332769   PMID:27473114   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000941478 CLINVAR
  RCV001811542 CLINVAR
dbSNP (RS) rs201766654 CLINVAR
MedGen C0031069 CLINVAR
  C3661900 CLINVAR
NCBI Gene MEFV CLINVAR
OMIM 249100 CLINVAR
  608107 CLINVAR
SNOMED CT 12579009 CLINVAR