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: ARID1A
synonym(s): B120, BAF250, BAF250a, BM029, C1orf4, ELD, hELD, hOSA1, MRD14, OSA1, P270, SMARCF1, ARID1A, ENSG00000117713
NM_006015.4
[CDS]
Reportable
hgvs_c: NM_006015.4:c.193C>G
reference AA: P
variant AA: A
reference codon: Ccg
variant codon: Gcg
cDNA pos: 566
CDS pos: 193
translation impact: non_synonymous
protein sequence:
NP_006006.3
AA pos: 65
hgvs_p: NP_006006.3:p.Pro65Ala
blosum: -1
PolyPhen2: unknown (0.0)
NM_139135.2
[CDS]
hgvs_c: NM_139135.2:c.193C>G
reference AA: P
variant AA: A
reference codon: Ccg
variant codon: Gcg
cDNA pos: 566
CDS pos: 193
translation impact: non_synonymous
protein sequence:
NP_624361.1
AA pos: 65
hgvs_p: NP_624361.1:p.Pro65Ala
blosum: -1
PolyPhen2: unknown (0.0)
gene: TRNAN-GUU
synonym(s): TRNAN-GUU
TRNAN-GUU
[intron]
Reportable
dbSNP
rs1429977258
TOPMED_MAF = 0.00000796381243628
ClinVar
445779
clinvar_significance = Uncertain_significance
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