1:27056154-27056154 A > G

Classification

Category 3 non_synonymous
CMH MAF 1 / 13144 samples (0.00761%)
1 het., 0 hom. (100%)
1 / 26288 total alleles (0.0038%)

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.1150A>G
reference AA: M
variant AA: V
reference codon: Atg
variant codon: Gtg
cDNA pos: 1523
CDS pos: 1150
translation impact: non_synonymous
protein sequence: NP_006006.3
AA pos: 384
hgvs_p: NP_006006.3:p.Met384Val
blosum: 1
PolyPhen2: benign (0.24)

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

TRNAN-GUU [intron]

rs999411101

gnomAD North-Western European, (2 / 42216), 0.00474%