X:107865078-107865078 G > A

Classification

Category 1 curation
CMH MAF 1 / 14969 samples (0.00668%)
0 het., 1 hom. (0%)
2 / 29938 total alleles (0.00668%)

gene: COL4A5 synonym(s): ASLN, ATS, CA54, COL4A5, ENSG00000188153

OMIM
OMIM:303630: COL4A5 (Heterogeneous,X-linked dominant inheritance)
OMIM:301050: Alport syndrome 1, X-linked

NM_000495.4 [CDS]
hgvs_c: NM_000495.4:c.2723G>A
reference AA: G
variant AA: E
reference codon: gGa
variant codon: gAa
cDNA pos: 3005
CDS pos: 2723
translation impact: non_synonymous
protein sequence: NP_000486.1
AA pos: 908
hgvs_p: NP_000486.1:p.Gly908Glu
blosum: -2
PolyPhen2: unknown (0.0)

rs878853089

235662
clinvar_significance = Likely_pathogenic
curated_classification = 1