1:27023087-27023087 C > G

Classification

Category 3 non_synonymous
CMH MAF 2 / 13144 samples (0.0152%)
2 het., 0 hom. (100%)
2 / 26288 total alleles (0.00761%)

gene: ARID1A synonym(s): B120, BAF250, BAF250a, BM029, C1orf4, ELD, hELD, hOSA1, MRD14, OSA1, P270, SMARCF1, ARID1A, ENSG00000117713

OMIM
OMIM:603024: ARID1A (Autosomal dominant inheritance)
OMIM:614607: Coffin-Siris syndrome 2

NM_006015.4 [CDS]
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)

gene: TRNAN-GUU synonym(s): TRNAN-GUU

TRNAN-GUU [intron]

rs1429977258
TOPMED_MAF = 0.00000796381243628

445779
clinvar_significance = Uncertain_significance