1:52861899-52861899 T > G

Classification

Category 5 non_synonymous
CMH MAF 49 / 6955 samples (0.705%)
47 het., 2 hom. (95.9%)
51 / 13910 total alleles (0.367%)

gene: ORC1 synonym(s): HSORC1, ORC1L, PARC1, ORC1, ENSG00000085840

OMIM
OMIM:601902: ORC1 (Autosomal recessive inheritance,Heterogeneous)
OMIM:224690: Meier-Gorlin syndrome 1

NM_004153.3 [CDS]
hgvs_c: NM_004153.3:c.540A>C
reference AA: Q
variant AA: H
reference codon: caA
variant codon: caC
cDNA pos: 771
CDS pos: 540
translation impact: non_synonymous
protein sequence: NP_004144.2
AA pos: 180
hgvs_p: NP_004144.2:p.Gln180His
blosum: 0
SIFT: tolerated (0.12)
PolyPhen2: possibly_damaging (0.519)

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

TRNAN-GUU [intron]

rs3087482
GMAF = 0.01198
TOPMED_MAF = 0.01292526758409785

445694
clinvar_significance = Benign

EVS
EVS MAF (European American/African American/All) = 0.000581,0.046074,0.015993

ExAC African, (459 / 10406), 4.41%
gnomAD African, (1032 / 24024), 4.3%