Variant: 12-64878200-C-T



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
12-64878200-C-T p.Phe370Phe synonymous TBK1 17 9296 0.0018287435 4648 0 0.00171909


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
synonymous TBK1 ENST00000331710 c.1110C>T p.Phe370Phe NA
non_coding_transcript_exon TBK1 ENST00000536906 n.14C>T NA NA
non_coding_transcript_exon TBK1 ENST00000545025 n.380C>T NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
0.00171909 NA 0.00149228 0.0012418 5.03525E-4 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 99 0.47474748 99 PASS
Yes F amyotrophic lateral sclerosis Caucasian HET 37 0.5135135 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 55 0.43636364 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 26 0.5769231 99 LIKELY
Yes F amyotrophic lateral sclerosis Caucasian HET 31 0.5483871 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 47 0.5106383 99 PASS
Yes F amyotrophic lateral sclerosis Caucasian HET 41 0.58536583 99 PASS
Yes F amyotrophic lateral sclerosis Caucasian HET 141 0.42553192 99 PASS
Yes F amyotrophic lateral sclerosis Caucasian HET 43 0.37209302 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 49 0.5102041 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 51 0.43137255 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 47 0.42553192 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 40 0.475 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 52 0.48076922 99 PASS
Yes M amyotrophic lateral sclerosis Hispanic HET 39 0.46153846 99 LIKELY
Yes F amyotrophic lateral sclerosis Caucasian HET 215 0.48372093 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 196 0.49489796 99 PASS