Variant: 12-64878200-C-T



Variant

Variant ID Effect Gene AC AN AF NS NHOM
12-64878200-C-T synonymous_variant TBK1 16 9190 0.0017410228 4595 0


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
synonymous_variant TBK1 ENST00000331710 c.1110C>T p.Phe370Phe NA
non_coding_transcript_exon_variant TBK1 ENST00000536906 n.14C>T NA NA
non_coding_transcript_exon_variant 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 NA 5.03525E-4 NA NA


Carrier

Gender count:
9 Male
7 Female
0 Ambiguous
0 NA
Ethnicity count:
0 African
13 Caucasian
0 EastAsian
1 Hispanic
0 MiddleEastern
0 SouthAsian
2 NA

Public Available Gender Phenotype Ethnicity GT DP GQ FILTER
Yes F amyotrophic lateral sclerosis Caucasian HET 99 99 PASS
Yes F amyotrophic lateral sclerosis Caucasian HET 37 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 55 99 PASS
Yes M amyotrophic lateral sclerosis NA HET 26 99 LIKELY
Yes F amyotrophic lateral sclerosis Caucasian HET 31 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 47 99 PASS
Yes F amyotrophic lateral sclerosis Caucasian HET 41 99 PASS
Yes F amyotrophic lateral sclerosis Caucasian HET 141 99 PASS
Yes F amyotrophic lateral sclerosis NA HET 43 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 49 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 51 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 40 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 52 99 PASS
Yes M amyotrophic lateral sclerosis Hispanic HET 39 99 LIKELY
Yes F amyotrophic lateral sclerosis Caucasian HET 215 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 196 99 PASS