1:8384717-8384717 C > T

Classification

Category 3

non_synonymous

CMH MAF

1 / 13105 samples (0.00763%)
1 het., 0 hom. (100%)
1 / 26210 total alleles (0.00382%)

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

gnomAD

gnomAD
Source: Exome

Ethnicity Count / Number MAF
African 0 / 13760 0%
America/Latino 0 / 32566 0%
Ashkenazi Jewish 0 / 9458 0%
East Asian 0 / 16742 0%
Finnish 0 / 19062 0%
Non-Finnish 1 / 100148 0.000999%
Other 0 / 5628 0%
South Asian 0 / 27490 0%
Korean 0 / 3412 0%
Japanese 0 / 102 0%
Other East Asian 0 / 13228 0%
Bulgarian 0 / 2050 0%
Estonian 0 / 226 0%
North-Western European 1 / 40642 0.00246%
Southern European 0 / 9260 0%
Swedish 0 / 20450 0%
Other non-Finnish European 0 / 27520 0%
Total MAF 1 / 224854 0.000445%


Export Variant

Curation

Uncertain Significance