Genomic variant #0000286365

Chromosome 16
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.3293407T>C
DNA change (hg38) -
Published as MEFV(NM_000243.2):c.2080A>G (p.M694V)
ISCN -
DB-ID MEFV_000008 See all 55 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00023 View details
Owner VKGL-NL_Utrecht




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
MEFV NM_000243.2 +/. - c.2080A>G pathogenic r.(?) p.(Met694Val)