Genomic variant #0000000618

Individual ID 00000058
Chromosome 16
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
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 (large NGS studies) 0.18032 View details
Owner Gerard C.P. Schaafsma




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

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     
0000000058 DNA SEQ-NG - - ALDH5A1, ATP7B, CFTR, CYP21A2, GBA, HEXB, IGHMBP2, MEFV, MYO5A, NHLRC1, NPHS1, PKHD1, PMM2, SERPINA1, SLC26A2, SMPD1 18 LOVD-team, but with Curator vacancy