1:24019079-24019079 G > T

Classification

Category 4 curation
CMH MAF 92 / 11948 samples (0.77%)
92 het., 0 hom. (100%)
92 / 23896 total alleles (0.385%)

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

TRNAN-GUU [intron]

gene: RPL11 synonym(s): DBA7, GIG34, L11, RPL11, ENSG00000142676

OMIM
OMIM:604175: RPL11 (Autosomal dominant inheritance)
OMIM:612562: Diamond-Blackfan anemia 7

NM_000975.3 [intron]
hgvs_c: NM_000975.3:c.7-20G>T
splice impact: three_prime_flank
protein sequence: NP_000966.2

rs142110379
GMAF = 0.001797
TOPMED_MAF = 0.00169629204892966

445550
clinvar_significance = Likely_benign

EVS
EVS MAF (European American/African American/All) = 0.001744,0.000454,0.001307

ExAC Non-Finnish, (209 / 66630), 0.314%
gnomAD Southern European, (84 / 11606), 0.724% curated_classification = 4