Variant: 12-64879235-T-C



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
12-64879235-T-C p.Ile397Thr missense+splice_region TBK1 3 8554 3.5071312E-4 4277 0 0.00252016


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense+splice_region TBK1 ENST00000331710 c.1190T>C p.Ile397Thr NA
missense TBK1 ENST00000331710 c.1190T>C p.Ile397Thr possibly
splice_region TBK1 ENST00000331710 c.1190T>C p.Ile397Thr NA
splice_region TBK1 ENST00000536906 n.94T>C NA NA
splice_region TBK1 ENST00000545025 n.460T>C NA NA
non_coding_transcript_exon TBK1 ENST00000536906 n.94T>C NA NA
non_coding_transcript_exon TBK1 ENST00000545025 n.460T>C NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
1.45322E-4 NA 8.23188E-5 NA 0.00252016 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 38 0.55263156 99 PASS
Yes Ambiguous amyotrophic lateral sclerosis Caucasian HET 10 0.6 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 57 0.5263158 99 PASS