Variant: 12-64854016-C-T



Variant

Variant ID Effect Gene AC AN AF NS NHOM
12-64854016-C-T synonymous_variant TBK1 15 9170 0.0016357688 4585 0


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
synonymous_variant TBK1 ENST00000331710 c.135C>T p.Phe45Phe NA
synonymous_variant TBK1 ENST00000538890 c.135C>T p.Phe45Phe NA
synonymous_variant TBK1 ENST00000540417 c.135C>T p.Phe45Phe NA
5_prime_UTR_variant TBK1 ENST00000539810 c.-22C>T NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
0.00103741 NA 9.66942E-4 NA 5.07614E-4 NA NA


Carrier

Gender count:
10 Male
5 Female
0 Ambiguous
0 NA
Ethnicity count:
0 African
13 Caucasian
0 EastAsian
2 Hispanic
0 MiddleEastern
0 SouthAsian
0 NA

Public Available Gender Phenotype Ethnicity GT DP GQ FILTER
Yes M amyotrophic lateral sclerosis Hispanic HET 33 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 79 99 PASS
Yes F amyotrophic lateral sclerosis Caucasian HET 197 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 83 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 16 71 LIKELY
Yes M amyotrophic lateral sclerosis Caucasian HET 37 99 LIKELY
Yes F amyotrophic lateral sclerosis Caucasian HET 45 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 35 99 PASS
Yes F amyotrophic lateral sclerosis Caucasian HET 133 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 141 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 28 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 155 99 PASS
Yes M amyotrophic lateral sclerosis Hispanic HET 62 99 PASS
Yes F amyotrophic lateral sclerosis Caucasian HET 181 99 PASS
Yes F amyotrophic lateral sclerosis Caucasian HET 37 99 PASS