Classification

non_synonymous

CMH MAF

1 / 14969 samples (0.00668%)
1 het., 0 hom. (100%)
1 / 29938 total alleles (0.00334%)

Genes

Consequences

gene: EGR2 synonym(s): AT591, CMT1D, CMT4E, KROX20, EGR2, ENSG00000122877

ENST00000242480.3 [CDS] Reportable
hgvs_c: ENST00000242480.3:c.1081A>G
reference AA: I
variant AA: V
reference codon: Atc
variant codon: Gtc
cDNA pos: 1407
CDS pos: 1081
translation impact: non_synonymous
protein sequence: ENSP00000242480.3
AA pos: 361
hgvs_p: ENSP00000242480.3:p.Ile361Val
blosum: 3
SIFT: tolerated (0.15)
PolyPhen2: benign (0.394)

ENST00000411732.1 [CDS]
hgvs_c: ENST00000411732.1:c.931A>G
reference AA: I
variant AA: V
reference codon: Atc
variant codon: Gtc
cDNA pos: 1318
CDS pos: 931
translation impact: non_synonymous
protein sequence: ENSP00000387634.1
AA pos: 311
hgvs_p: ENSP00000387634.1:p.Ile311Val
blosum: 3
SIFT: tolerated (0.11)
PolyPhen2: benign (0.394)

ENST00000439032.1 [CDS]
hgvs_c: ENST00000439032.1:c.1081A>G
reference AA: I
variant AA: V
reference codon: Atc
variant codon: Gtc
cDNA pos: 1290
CDS pos: 1081
translation impact: non_synonymous
protein sequence: ENSP00000402040.1
AA pos: 361
hgvs_p: ENSP00000402040.1:p.Ile361Val
blosum: 3
SIFT: tolerated (0.15)
PolyPhen2: benign (0.394)

dbSNP

rs147417827
TOPMED_MAF = 0.00000796381243628

Exome Variant Server

EVS
EVS MAF (European American/African American/All) = 0.000116,0.000000,0.000077

Export Variant

Curation