Classification

Category 3

non_synonymous

CMH MAF

5 / 9594 samples (0.0521%)
5 het., 0 hom. (100%)
5 / 19188 total alleles (0.0261%)

Genes

gene: COL9A2 synonym(s): DJ39G22.4, EDM2, MED, STL5, COL9A2, ENSG00000049089

NM_001852.3 [CDS] Reportable
hgvs_c: NM_001852.3:c.1114C>T
reference AA: P
variant AA: S
reference codon: Cca
variant codon: Tca
cDNA pos: 1184
CDS pos: 1114
translation impact: non_synonymous
protein sequence: NP_001843.1
AA pos: 372
hgvs_p: NP_001843.1:p.Pro372Ser
blosum: -1
SIFT: tolerated (0.07)
PolyPhen2: possibly_damaging (0.876)

gene: TRNAN-GUU synonym(s): TRNAN-GUU

TRNAN-GUU [intron] Reportable

dbSNP

rs1057520157

ClinVar

377193
clinvar_significance = Uncertain_significance
clinvar_submission_scv = SCV000511465.1

Export Variant

Curation

Uncertain Significance