9:111668702-111668702 C > T

Classification

Category 2 premature_stop
CMH MAF 2 / 14969 samples (0.0134%)
2 het., 0 hom. (100%)
2 / 29938 total alleles (0.00668%)

gene: ELP1 synonym(s): DYS, ELP1, FD, IKAP, IKI3, TOT1, IKBKAP, ENSG00000070061

OMIM
OMIM:603722: ELP1 (Autosomal recessive inheritance)
OMIM:223900: Dysautonomia, familial

NM_003640.3 [CDS]
hgvs_c: NM_003640.3:c.1524G>A
reference AA: W
variant AA: *
reference codon: tgG
variant codon: tgA
cDNA pos: 2044
CDS pos: 1524
translation impact: premature_stop
protein sequence: NP_003631.2
AA pos: 508
hgvs_p: NP_003631.2:p.Trp508Ter
blosum: -4