Classification
Category 3
non_synonymous
CMH MAF
2 /
13144 samples
(0.0152%)
2 het.,
0 hom.
(100%)
2 /
26288 total alleles
(0.00761%)
Genes
gene: ADAR
synonym(s): ADAR1, AGS6, DRADA, DSH, DSRAD, G1P1, IFI-4, IFI4, K88DSRBP, P136, ADAR, ENSG00000160710
ENST00000368474.4
[CDS]
Reportable
hgvs_c: ENST00000368474.4:c.3083G>C
reference AA: G
variant AA: A
reference codon: gGg
variant codon: gCg
cDNA pos: 3283
CDS pos: 3083
translation impact: non_synonymous
protein sequence:
ENSP00000357459.4
AA pos: 1028
hgvs_p: ENSP00000357459.4:p.Gly1028Ala
blosum: 0
SIFT: deleterious (0.0)
PolyPhen2: probably_damaging (1.0)
ENST00000529168.1
[CDS]
hgvs_c: ENST00000529168.1:c.2990G>C
reference AA: G
variant AA: A
reference codon: gGg
variant codon: gCg
cDNA pos: 2990
CDS pos: 2990
translation impact: non_synonymous
protein sequence:
ENSP00000431794.1
AA pos: 997
hgvs_p: ENSP00000431794.1:p.Gly997Ala
blosum: 0
SIFT: deleterious (0.0)
PolyPhen2: probably_damaging (1.0)
NM_001025107.2
[CDS]
hgvs_c: NM_001025107.2:c.2198G>C
reference AA: G
variant AA: A
reference codon: gGg
variant codon: gCg
cDNA pos: 3194
CDS pos: 2198
translation impact: non_synonymous
protein sequence:
NP_001020278.1
AA pos: 733
hgvs_p: NP_001020278.1:p.Gly733Ala
blosum: 0
SIFT: deleterious (0.0)
PolyPhen2: probably_damaging (1.0)
NM_001193495.1
[CDS]
hgvs_c: NM_001193495.1:c.2198G>C
reference AA: G
variant AA: A
reference codon: gGg
variant codon: gCg
cDNA pos: 3363
CDS pos: 2198
translation impact: non_synonymous
protein sequence:
NP_001180424.1
AA pos: 733
hgvs_p: NP_001180424.1:p.Gly733Ala
blosum: 0
SIFT: deleterious (0.0)
PolyPhen2: probably_damaging (1.0)
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