Variant: 12-64854016-C-T



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
12-64854016-C-T p.Phe45Phe synonymous TBK1 15 9196 0.001631144 4598 0 0.00103741


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
synonymous TBK1 ENST00000331710 c.135C>T p.Phe45Phe NA
synonymous TBK1 ENST00000538890 c.135C>T p.Phe45Phe NA
synonymous TBK1 ENST00000540417 c.135C>T p.Phe45Phe NA
5_prime_UTR 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 9.55779E-4 5.07614E-4 NA NA


Carrier

Gender count:
Ancestry count:

Public Available Gender Phenotype Ancestry GT DP Percent Alt Read GQ FILTER
Yes M amyotrophic lateral sclerosis Hispanic HET 33 0.5151515 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 79 0.443038 99 PASS
Yes F amyotrophic lateral sclerosis Caucasian HET 197 0.46192893 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 83 0.5060241 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 16 0.625 71 LIKELY
Yes M amyotrophic lateral sclerosis Caucasian HET 37 0.5405405 99 LIKELY
Yes F amyotrophic lateral sclerosis Caucasian HET 45 0.4888889 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 35 0.51428574 99 PASS
Yes F amyotrophic lateral sclerosis Caucasian HET 133 0.5413534 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 141 0.4539007 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 28 0.4642857 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 155 0.4 99 PASS
Yes M amyotrophic lateral sclerosis Hispanic HET 62 0.62903225 99 PASS
Yes F amyotrophic lateral sclerosis Caucasian HET 181 0.49171272 99 PASS
Yes F amyotrophic lateral sclerosis Caucasian HET 37 0.3783784 99 PASS