1:8384555-8384555 A > G

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.166A>G
reference AA: I
variant AA: V
reference codon: Att
variant codon: Gtt
cDNA pos: 166
CDS pos: 166
translation impact: non_synonymous
protein sequence: NP_001073866.1
AA pos: 56
hgvs_p: NP_001073866.1:p.Ile56Val
blosum: 3
SIFT: deleterious_low_confidence (0.0)
PolyPhen2: probably_damaging (0.982)

dbSNP

rs1471556913
TOPMED_MAF = 0.00000796381243628

Export Variant

Curation

Uncertain Significance