Variant #0000000616 (NC_000016.9:g.3304463C>T, MEFV(NM_000243.2):c.605G>A)

Individual ID 00000067
Chromosome 16
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Does not affect function
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.3304463C>T
DNA change (hg38) g.3254463C>T
Published as -
ISCN -
DB-ID MEFV_000001 See all 12 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.23844 View details
Owner Gerard C.P. Schaafsma
Database submission license No license selected
Created by Gerard C.P. Schaafsma
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MEFV NM_000243.2 ?/- 2 c.605G>A r.(?) p.(Arg202Gln)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000067 DNA SEQ-NG - - ASPA, ATP7B, CDH23, CPT1A, CYP21A2, ETFB, GALC, GLB1, MEFV, MTHFR, MVK, NHLRC1, NPHS1, SERPINA1, SLC26A2, SMPD1, WNT10A 18 Global Variome, with Curator vacancy