1:154560601-154560601 C > T

Classification

Category 1
CMH MAF 1 / 13144 samples (0.00761%)
1 het., 0 hom. (100%)
1 / 26288 total alleles (0.0038%)

gene: ADAR synonym(s): ADAR1, AGS6, DRADA, DSH, DSRAD, G1P1, IFI-4, IFI4, K88DSRBP, P136, ADAR, ENSG00000160710

OMIM
OMIM:146920: ADAR (Autosomal recessive inheritance)
OMIM:615010: Aicardi-Goutieres syndrome 6
OMIM:127400: Dyschromatosis symmetrica hereditaria

ENST00000368474.4 [CDS]
hgvs_c: ENST00000368474.4:c.3019G>A
reference AA: G
variant AA: R
reference codon: Gga
variant codon: Aga
cDNA pos: 3219
CDS pos: 3019
splice impact: five_prime_exonic
translation impact: non_synonymous
protein sequence: ENSP00000357459.4
AA pos: 1007
hgvs_p: ENSP00000357459.4:p.Gly1007Arg
blosum: -2
SIFT: deleterious (0.0)
PolyPhen2: probably_damaging (1.0)

rs398122822

39458
clinvar_significance = Pathogenic_Likely_pathogenic
clinvar_disease = Symmetrical dyschromatosis of extremities
clinvar_disease = Aicardi-Goutieres syndrome 6