1:63788984-63788995 GGCCGGAGCCGG > -

Classification

Category 5 curation
CMH MAF 123 / 13144 samples (0.936%)
121 het., 2 hom. (98.4%)
125 / 26288 total alleles (0.476%)

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

TRNAN-GUU [intron]

gene: FOXD3 synonym(s): AIS1, Genesis, HFH2, VAMAS2, FOXD3, ENSG00000187140

OMIM
OMIM:611539: FOXD3
OMIM:607836: {Autoimmune disease, susceptibility to, 1}

NM_012183.2 [CDS]
hgvs_c: NM_012183.2:c.262_273del
reference AA: AAGAG
variant AA: A
reference codon: gcGGCCGGAGCCGGg
variant codon: gcg
cDNA pos: 255
CDS pos: 255
translation impact: in_frame_indel
protein sequence: NP_036315.1
AA pos: 85
hgvs_p: NP_036315.1:p.Ala88_Gly91del
blosum: 4

rs151026788
GMAF = 0.01418
TOPMED_MAF = 0.01670807849133537

EVS
EVS MAF (European American/African American/All) = 0.000743,0.044582,0.014109

gnomAD African, (475 / 8864), 5.36% curated_classification = 5