RGD:126767136 Rat Genome Database

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Variant: RGD:126767136 -  Homo sapiens

RGD ID: 126767136
RS ID: rs145078602
ClinVar ID: CV1012127
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MEFV  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 3,304,665
GRCh38 16 3,254,665
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+1646T>A
NM_000243.3:c.403T>A
LRG_190:g.6963T>A
NG_007871.1:g.6963T>A
More... 		10/13/2020 intron variant uncertain significance Benign paroxysmal peritonitis; 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: Y to N (nonsynonymous)
Amino Acid Position: 135
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAKTPSDHLLSTLEELVPYDFEKFKFKLQNTSVQKEHSRIPRSQIQRARPVKMATLLVTYYGEEYAVQLTLQVLRAINQR
LLAEELHRAAIQEYSTQENGTDDSAASSSLGENKPRSLKTPDHPEGNEGNGPRPNGGGAASLRCSQPEAGRGLSRKPLSK
RREKASEGLDAQGKPRTRSPALPGGRSPGPCRALEGGQAEVRLRRNASSAGRLQGLAGGAPGQKECRPFEVYLPSGKMRP
RSLEVTISTGEKAPANPEILLTLEEKTAANLDSATEPRARPTPDGGASADLKEGPGNPEHSVTGRPPDTAASPRCHAQEG
DPVDGTCVRDSCSFPEAVSGHPQASGSRSPGCPRCQDSHERKSPGSLSPQPLPQCKRHLKQVQLLFCEDHDEPICLICSL
SQEHQGHRVRPIEEVALEHKKKIQKQLEHLKKLRKSGEEQRSYGEEKAVSFLKQTEALKQRVQRKLEQVYYFLEQQEHFF
VASLEDVGQMVGQIRKAYDTRVSQDIALLDALIGELEAKECQSEWELLQDIGDILHRAKTVPVPEKWTTPQEIKQKIQLL
HQKSEFVEKSTKYFSETLRSEMEMFNVPELIGAQAHAVNVILDAETAYPNLIFSDDLKSVRLGNKWERLPDGPQRFDSCI
IVLGSPSFLSGRRYWEVEVGDKTAWILGACKTSISRKGNMTLSPENGYWVVIMMKENEYQASSVPPTRLLIKEPPKRVGI
FVDYRVGSISFYNVTARSHIYTFASCSFSGPLQPIFSPGTRDGGKNTAPLTICPVGGQGPD*

Gene Symbol:MEFV
Accession:NM_001198536
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001320729 CLINVAR
dbSNP (RS) rs145078602 CLINVAR
MedGen C0031069 CLINVAR
NCBI Gene MEFV CLINVAR
OMIM 249100 CLINVAR
  608107 CLINVAR
SNOMED CT 12579009 CLINVAR