1:29527025-29527026 - > A

Classification

Category 1
CMH MAF 2 / 11944 samples (0.0167%)
2 het., 0 hom. (100%)
2 / 23888 total alleles (0.00837%)

gene: TRNAN-GUU synonym(s): TRNAN-GUU

TRNAN-GUU [intron]

gene: MECR synonym(s): CGI-63, FASN2B, NRBF1, MECR, ENSG00000116353

OMIM
OMIM:608205: MECR
OMIM:617282: Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities

NM_016011.2 [intron]
hgvs_c: NM_016011.2:c.830+2dupT
protein sequence: NP_057095.2

rs756421370
TOPMED_MAF = 0.00007167431192660

ExAC Non-Finnish, (10 / 66296), 0.0151%
gnomAD Ashkenazi Jewish, (32 / 10368), 0.309%