Variant: 12-64878270-T-G



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
12-64878270-T-G p.Tyr394Asp missense TBK1 3 9028 3.322995E-4 4514 0 4.38035E-6


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense TBK1 ENST00000331710 c.1180T>G p.Tyr394Asp probably
non_coding_transcript_exon TBK1 ENST00000536906 n.84T>G NA NA
non_coding_transcript_exon TBK1 ENST00000545025 n.450T>G NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
NA NA 4.38035E-6 NA NA NA NA


Carrier

Gender count:
Ancestry count:

Public Available Gender Phenotype Ancestry GT DP Percent Alt Read GQ FILTER
Yes F amyotrophic lateral sclerosis Caucasian HET 29 0.51724136 99 PASS
Yes F amyotrophic lateral sclerosis Caucasian HET 113 0.53097343 99 PASS
Yes F amyotrophic lateral sclerosis Caucasian HET 94 0.4893617 99 PASS