Genomic variant #0000000628

Individual ID 00000026
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.3293407T>C
DNA change (hg38) g.3243407T>C
Published as -
ISCN -
DB-ID MEFV_000008 See all 54 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00023 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.2080A>G - r.(?) p.(Met694Val)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000026 DNA SEQ-NG - - AMPD1, ATP7B, CBS, CPT1A, ETFB, GLB1, GRHPR, HEXB, INVS, MECP2, MEFV, NHLRC1, NPHS1, NTRK1, SERPINA1, SLC26A2 17 LOVD-team, but with Curator vacancy