Variant: 12-64879235-T-C



Variant

Variant ID Effect Gene AC AN AF NS NHOM
12-64879235-T-C missense_variant+splice_region_variant TBK1 3 8528 3.5178236E-4 4264 0


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense_variant+splice_region_variant TBK1 ENST00000331710 c.1190T>C p.Ile397Thr unknown
missense_variant TBK1 ENST00000331710 c.1190T>C p.Ile397Thr possibly
splice_region_variant TBK1 ENST00000331710 c.1190T>C p.Ile397Thr unknown
splice_region_variant TBK1 ENST00000536906 n.94T>C NA unknown
splice_region_variant TBK1 ENST00000545025 n.460T>C NA unknown
non_coding_transcript_exon_variant TBK1 ENST00000536906 n.94T>C NA NA
non_coding_transcript_exon_variant TBK1 ENST00000545025 n.460T>C NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
1.45322E-4 NA 8.23188E-5 NA 0.00252016 NA NA


Carrier

Gender count:
2 Male
0 Female
1 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 M amyotrophic lateral sclerosis Caucasian HET 38 99 PASS
Yes Ambiguous amyotrophic lateral sclerosis Caucasian HET 10 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 57 99 PASS