Variant: 12-64878270-T-G



Variant

Variant ID Effect Gene AC AN AF NS NHOM
12-64878270-T-G missense_variant TBK1 3 8960 3.3482144E-4 4480 0


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense_variant TBK1 ENST00000331710 c.1180T>G p.Tyr394Asp probably
non_coding_transcript_exon_variant TBK1 ENST00000536906 n.84T>G NA NA
non_coding_transcript_exon_variant TBK1 ENST00000545025 n.450T>G NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
NA NA 4.38035E-6 NA NA NA NA


Carrier

Gender count:
0 Male
3 Female
0 Ambiguous
0 NA
Ethnicity count:
0 African
3 Caucasian
0 EastAsian
0 Hispanic
0 MiddleEastern
0 SouthAsian
0 NA

Public Available Gender Phenotype Ethnicity GT DP GQ FILTER
Yes F amyotrophic lateral sclerosis Caucasian HET 29 99 PASS
Yes F amyotrophic lateral sclerosis Caucasian HET 113 99 PASS
Yes F amyotrophic lateral sclerosis Caucasian HET 94 99 PASS