RGD:126755882 Rat Genome Database

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Variant: RGD:126755882 -  Homo sapiens

RGD ID: 126755882
RS ID: rs1437746739
ClinVar ID: CV1032606
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MEFV  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 3,304,229
GRCh38 16 3,254,229
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001198536.2:c.277+2082G>A
NM_000243.3:c.839G>A
LRG_190:g.7399G>A
NG_007871.1:g.7399G>A
More... 		02/08/2023 intron variant likely benign|uncertain significance Benign paroxysmal peritonitis; Dominant Familial Mediterranean Fever; FMF, AUTOSOMAL DOMINANT; Gomm Button disease; Periodic disease; Periodic peritonitis; POLYSEROSITIS, FAMILIAL PAROXYSMAL; POLYSEROSITIS, RECURRENT; Sweet Syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MEFV
Accession:NM_000243
Location:EXON
Amino Acid Prediction: R to K (nonsynonymous)
Amino Acid Position: 280
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAKTPSDHLLSTLEELVPYDFEKFKFKLQNTSVQKEHSRIPRSQIQRARPVKMATLLVTYYGEEYAVQLTLQVLRAINQR
LLAEELHRAAIQEYSTQENGTDDSAASSSLGENKPRSLKTPDHPEGNEGNGPRPYGGGAASLRCSQPEAGRGLSRKPLSK
RREKASEGLDAQGKPRTRSPALPGGRSPGPCRALEGGQAEVRLRRNASSAGRLQGLAGGAPGQKECRPFEVYLPSGKMRP
RSLEVTISTGEKAPANPEILLTLEEKTAANLDSATEPRAKPTPDGGASADLKEGPGNPEHSVTGRPPDTAASPRCHAQEG
DPVDGTCVRDSCSFPEAVSGHPQASGSRSPGCPRCQDSHERKSPGSLSPQPLPQCKRHLKQVQLLFCEDHDEPICLICSL
SQEHQGHRVRPIEEVALEHKKKIQKQLEHLKKLRKSGEEQRSYGEEKAVSFLKQTEALKQRVQRKLEQVYYFLEQQEHFF
VASLEDVGQMVGQIRKAYDTRVSQDIALLDALIGELEAKECQSEWELLQDIGDILHRAKTVPVPEKWTTPQEIKQKIQLL
HQKSEFVEKSTKYFSETLRSEMEMFNVPELIGAQAHAVNVILDAETAYPNLIFSDDLKSVRLGNKWERLPDGPQRFDSCI
IVLGSPSFLSGRRYWEVEVGDKTAWILGACKTSISRKGNMTLSPENGYWVVIMMKENEYQASSVPPTRLLIKEPPKRVGI
FVDYRVGSISFYNVTARSHIYTFASCSFSGPLQPIFSPGTRDGGKNTAPLTICPVGGQGPD*

Gene Symbol:MEFV
Accession:NM_001198536
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001339143 CLINVAR
  RCV002264271 CLINVAR
  RCV003127814 CLINVAR
  RCV003127815 CLINVAR
dbSNP (RS) rs1437746739 CLINVAR
MedGen C0031069 CLINVAR
  C0085077 CLINVAR
  C1851347 CLINVAR
  C3890737 CLINVAR
NCBI Gene MEFV CLINVAR
OMIM 134610 CLINVAR
  249100 CLINVAR
  608068 CLINVAR
  608107 CLINVAR
SNOMED CT 12579009 CLINVAR
  84625002 CLINVAR