We recommend that this information below should not be used as a reference for phenotype-genotype correlation.

Detail variant
Location in the gene exon 10
Usual name 
Name as first published or submitted to Infevers.
May be different from the HGVS edited protein and sequence names.
HGVS protein name p.(Asp661Tyr)
HGVS sequence name c.1981G>T
rs Number -
Alteration Substitution
N base(s) 1
Base substituded G>T
Pathogenicity score/Status
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Not classified
Population Frequencies
GnomAD v2.1.1 via Annovar
See data
Using In silico prediction? Unknown
Functional tests No
Functional approach Not applicable
Consequence Unknown
Technique(s) used Sequencing Sanger
a variant observed in symptomatic subjects does not imply its causal role
Disease related symptoms in this patient Symptomatic
Associated phenotype in this patient PAAD-FMF (with criteria)
Country of origin / Ancestry Iran, islamic republic of / Asian
Reference Hosseini-Asl,SS; Salehzadeh,F; Mohammadi-Kebar,Y
Personal communication
Contributed by S Saied HOSSEINI-ASL
Comment -
Input date 2018-12-14