Genomic variant #0000000629

Individual ID 00000048
Chromosome 16
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Probably affects function
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 10 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00254 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 ?/. 10 c.2084A>G - r.(?) p.(Lys695Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000048 DNA SEQ-NG - - ATP7B, CPT1A, DPYD, ETFB, GAA, GBA, GLB1, IGHMBP2, LAMA2, MEFV, NHLRC1, NPHS1, SERPINA1 14 LOVD-team, but with Curator vacancy