RGD:13615451 Rat Genome Database

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Variant: RGD:13615451 -  Homo sapiens

RGD ID: 13615451
RS ID: rs104895134
ClinVar ID: CV530457
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MEFV  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 3,304,529
GRCh38 16 3,254,529
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000243.2:c.539C>T
LRG_190t1:c.539C>T
LRG_190:g.7099C>T
NG_007871.1:g.7099C>T
More... 		02/08/2023 intron variant benign|conflicting interpretations of pathogenicity|uncertain significance AllHighlyPenetrant; 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: P to L (nonsynonymous)
Amino Acid Position: 180
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAKTPSDHLLSTLEELVPYDFEKFKFKLQNTSVQKEHSRIPRSQIQRARPVKMATLLVTYYGEEYAVQLTLQVLRAINQR
LLAEELHRAAIQEYSTQENGTDDSAASSSLGENKPRSLKTPDHPEGNEGNGPRPYGGGAASLRCSQPEAGRGLSRKPLSK
RREKASEGLDAQGKPRTRSLALPGGRSPGPCRALEGGQAEVRLRRNASSAGRLQGLAGGAPGQKECRPFEVYLPSGKMRP
RSLEVTISTGEKAPANPEILLTLEEKTAANLDSATEPRARPTPDGGASADLKEGPGNPEHSVTGRPPDTAASPRCHAQEG
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 RCV000632793 CLINVAR
  RCV002469226 CLINVAR
  RCV003126883 CLINVAR
  RCV003126884 CLINVAR
dbSNP (RS) rs104895134 CLINVAR
MedGen C0031069 CLINVAR
  C0085077 CLINVAR
  C1851347 CLINVAR
  CN169374 CLINVAR
NCBI Gene MEFV CLINVAR
OMIM 134610 CLINVAR
  249100 CLINVAR
  608068 CLINVAR
  608107 CLINVAR
SNOMED CT 12579009 CLINVAR
  84625002 CLINVAR