Variant: 12-64891000-TGAA-T



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
12-64891000-TGAA-T p.Glu643del disruptive_inframe_deletion TBK1 5 8162 6.1259494E-4 4081 0 3.18512E-5


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
disruptive_inframe_deletion TBK1 ENST00000331710 c.1928_1930delAAG p.Glu643del NA
downstream_gene TBK1 ENST00000541805 n.*1290_*1292delGAA NA NA
non_coding_transcript_exon TBK1 ENST00000545392 n.103_105delAAG NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
NA NA 8.30096E-6 3.18512E-5 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 Caucasian HET 93 0.50537634 99 PASS
Yes F amyotrophic lateral sclerosis Caucasian HET 14 0.21428572 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 23 0.47826087 99 PASS
Yes F amyotrophic lateral sclerosis Caucasian HET 42 0.4047619 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 32 0.4375 99 PASS