Classification
Category 3
non_synonymous
CMH MAF
2 /
6955 samples
(0.0288%)
2 het.,
0 hom.
(100%)
2 /
13910 total alleles
(0.0144%)
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
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