1:8384717-8384717 C > T

Classification

Category 3

non_synonymous

CMH MAF

1 / 8646 samples (0.0116%)
1 het., 0 hom. (100%)
1 / 17292 total alleles (0.00578%)

Genes

Consequences
gene: SLC45A1 synonym(s): DNB5, SLC45A1, ENSG00000162426

NM_001080397.1 [CDS] Reportable
hgvs_c: NM_001080397.1:c.328C>T
reference AA: P
variant AA: S
reference codon: Ccg
variant codon: Tcg
cDNA pos: 328
CDS pos: 328
translation impact: non_synonymous
protein sequence: NP_001073866.1
AA pos: 110
hgvs_p: NP_001073866.1:p.Pro110Ser
blosum: -1
SIFT: deleterious (0.0)
PolyPhen2: probably_damaging (1.0)

dbSNP

rs1192719113
TOPMED_MAF = 0.00001592762487257

Export Variant

Curation

Uncertain Significance