Total 1 pathogenic variants reported for Primary progressive non fluent aphasia
Single Nucleotide Variant (1)
Variant Name
Variant Type
Variant Genomic Location
Clinical Significance
Phenotype Condition
Review Status
ClinGen Allele
dbSNP ID
Variation/condition record
NM_013254.4(TBK1):c.2107G>T (p.Glu703Ter)
SNV
Germline
Chr12:64498008
Likely pathogenic
Primary progressive non fluent aphasia
Corticobasal syndrome
No Assertion Criteria Provided
rs_1565825132
1 Submitters
RCV000768401