Variant: 12-64849714-A-C



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
12-64849714-A-C p.Asn22His missense TBK1 1 9256 1.0803803E-4 4628 0 3.98457E-6


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense TBK1 ENST00000331710 c.64A>C p.Asn22His probably
missense TBK1 ENST00000538890 c.64A>C p.Asn22His probably
missense TBK1 ENST00000540417 c.64A>C p.Asn22His probably
5_prime_UTR TBK1 ENST00000539810 c.-93A>C NA NA
downstream_gene XPOT ENST00000332707 c.*7803A>C NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
NA NA 3.98457E-6 NA NA NA NA


Carrier

Gender count:
Ancestry count:

Public Available Gender Phenotype Ancestry GT DP Percent Alt Read GQ FILTER
Yes M amyotrophic lateral sclerosis Caucasian HET 44 0.45454547 99 PASS