X:71787760-71787760 C > G

Classification

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

gene: HDAC8 synonym(s): CDA07, CDLS5, HD8, HDACL1, MRXS6, RPD3, WTS, HDAC8, ENSG00000147099

OMIM
OMIM:300269: HDAC8 (X-linked inheritance)
OMIM:300882: Cornelia de Lange syndrome 5

NM_018486.2 [CDS]
hgvs_c: NM_018486.2:c.416G>C
reference AA: G
variant AA: A
reference codon: gGa
variant codon: gCa
cDNA pos: 758
CDS pos: 416
translation impact: non_synonymous
protein sequence: NP_060956.1
AA pos: 139
hgvs_p: NP_060956.1:p.Gly139Ala
blosum: 0
SIFT: deleterious (0.05)
PolyPhen2: possibly_damaging (0.891)

rs878853048

235479
clinvar_significance = Conflicting_interpretations_of_pathogenicity
clinvar_disease = Inborn genetic diseases
curated_classification = 1