1:155630146-155630146 A > -

Classification

Category 2 frameshift
CMH MAF 2 / 13105 samples (0.0153%)
2 het., 0 hom. (100%)
2 / 26210 total alleles (0.00763%)

gene: YY1AP1 synonym(s): HCCA1, HCCA2, YAP, YY1AP, YY1AP1, ENSG00000163374

OMIM
OMIM:607860: YY1AP1
OMIM:602531: Grange syndrome

NM_139118.2 [CDS]
hgvs_c: NM_139118.2:c.1693del
reference AA: S
variant AA: X
reference codon: Tcc
variant codon: cc
cDNA pos: 1749
CDS pos: 1693
translation impact: frameshift
protein sequence: NP_620829.1
AA pos: 565
hgvs_p: NP_620829.1:p.Ser565ProfsTer8
blosum: 0

rs1458474712
TOPMED_MAF = 0.00001592762487257

EVS
EVS MAF (European American/African American/All) = 0.000242,0.000000,0.000160

gnomAD North-Western European, (1 / 42192), 0.00237%