Genomic variant #0000130080

Individual ID 00080882
Chromosome 16
Allele Both (homozygous)
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) g.3243407T>C
Published as -
ISCN -
DB-ID MEFV_000008 See all 55 reported entries
Variant remarks -
Reference Trujillano et al., submitted
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00023 View details
Owner Daniel Trujillano




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
MEFV NM_000243.2 +/. - c.2080A>G ACMG: 5 r.(?) p.(Met694Val)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000080994 DNA SEQ;SEQ-NG - - MEFV 1 Daniel Trujillano