Classification
Category 5
non_synonymous
CMH MAF
4576 /
6955 samples
(65.8%)
4565 het.,
11 hom.
(99.8%)
4587 /
13910 total alleles
(33%)
Genes
gene: NOTCH2
synonym(s): AGS2, HJCYS, hN2, NOTCH2, ENSG00000134250
NM_001200001.1
[CDS]
hgvs_c: NM_001200001.1:c.112G>A
reference AA: E
variant AA: K
reference codon: Gaa
variant codon: Aaa
cDNA pos: 409
CDS pos: 112
translation impact: non_synonymous
protein sequence:
NP_001186930.1
AA pos: 38
hgvs_p: NP_001186930.1:p.Glu38Lys
blosum: 1
PolyPhen2: benign (0.099)
NM_024408.3
[CDS]
Reportable
hgvs_c: NM_024408.3:c.112G>A
reference AA: E
variant AA: K
reference codon: Gaa
variant codon: Aaa
cDNA pos: 409
CDS pos: 112
translation impact: non_synonymous
protein sequence:
NP_077719.2
AA pos: 38
hgvs_p: NP_077719.2:p.Glu38Lys
blosum: 1
SIFT: tolerated (0.05)
PolyPhen2: benign (0.028)
gene: TRNAN-GUU
synonym(s): TRNAN-GUU
TRNAN-GUU
[intron]
Reportable
dbSNP
rs61788901
COSMIC
COSMIC Mutation ID = COSM1736165
COSMIC_FATHMM_PREDICTION = NEUTRAL
COSMIC_MUTATION_SOMATIC_STATUS = true
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