Variant: 12-64890997-T-C



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
12-64890997-T-C p.Asp639Asp synonymous TBK1 1 8226 1.2156577E-4 4113 0 1.69655E-5


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
synonymous TBK1 ENST00000331710 c.1917T>C p.Asp639Asp NA
downstream_gene TBK1 ENST00000541805 n.*1286T>C NA NA
non_coding_transcript_exon TBK1 ENST00000545392 n.92T>C NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
1.69655E-5 NA 1.65546E-5 NA NA NA NA


Carrier

Gender count:
Ancestry count:

Public Available Gender Phenotype Ancestry GT DP Percent Alt Read GQ FILTER
Yes M amyotrophic lateral sclerosis African HET 25 0.56 99 PASS