Variant #0000000631 (NC_000016.9:g.3293403T>C, MEFV(NM_000243.2):c.2084A>G)

Individual ID 00000005
Chromosome 16
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Probably affects function
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.3293403T>C
DNA change (hg38) g.3243403T>C
Published as -
ISCN -
DB-ID MEFV_000009 See all 12 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00532 View details
Owner Gerard C.P. Schaafsma
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MEFV NM_000243.2 ?/. 10 c.2084A>G r.(?) p.(Lys695Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000005 DNA SEQ-NG - - ACADM, ATP7B, CFTR, ETFB, GLB1, MEFV, NHLRC1, PKHD1, RAPSN, SERPINA1, SLC26A2, USH2A 12 Global Variome, with Curator vacancy