1:154558776-154558776 C > G

Classification

Category 3

non_synonymous

CMH MAF

2 / 6955 samples (0.0288%)
2 het., 0 hom. (100%)
2 / 13910 total alleles (0.0144%)

Genes

Consequences
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)

Export Variant

Curation

Uncertain Significance