Classification
Category 3
non_synonymous
CMH MAF
1 /
13105 samples
(0.00763%)
1 het.,
0 hom.
(100%)
1 /
26210 total alleles
(0.00382%)
Genes
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