10:288038-288038 C > A

Classification

Category 3

non_synonymous

CMH MAF

1 / 13144 samples (0.00761%)
1 het., 0 hom. (100%)
1 / 26288 total alleles (0.0038%)

Genes

Consequences
gene: ZMYND11 synonym(s): BRAM1, BS69, RP11-486H9.1, ZMYND11, ENSG00000015171

NM_001202464.1 [CDS]
hgvs_c: NM_001202464.1:c.747C>A
reference AA: D
variant AA: E
reference codon: gaC
variant codon: gaA
cDNA pos: 842
CDS pos: 747
translation impact: non_synonymous
protein sequence: NP_001189393.1
AA pos: 249
hgvs_p: NP_001189393.1:p.Asp249Glu
blosum: 2
SIFT: tolerated (0.26)
PolyPhen2: benign (0.057)

NM_001202465.1 [CDS]
hgvs_c: NM_001202465.1:c.654C>A
reference AA: D
variant AA: E
reference codon: gaC
variant codon: gaA
cDNA pos: 1082
CDS pos: 654
translation impact: non_synonymous
protein sequence: NP_001189394.1
AA pos: 218
hgvs_p: NP_001189394.1:p.Asp218Glu
blosum: 2
SIFT: tolerated (0.26)
PolyPhen2: benign (0.022)

NM_001202466.1 [CDS]
hgvs_c: NM_001202466.1:c.744C>A
reference AA: D
variant AA: E
reference codon: gaC
variant codon: gaA
cDNA pos: 1172
CDS pos: 744
translation impact: non_synonymous
protein sequence: NP_001189395.1
AA pos: 248
hgvs_p: NP_001189395.1:p.Asp248Glu
blosum: 2
SIFT: tolerated (0.26)
PolyPhen2: benign (0.046)

NM_001202467.1 [CDS]
hgvs_c: NM_001202467.1:c.747C>A
reference AA: D
variant AA: E
reference codon: gaC
variant codon: gaA
cDNA pos: 766
CDS pos: 747
translation impact: non_synonymous
protein sequence: NP_001189396.1
AA pos: 249
hgvs_p: NP_001189396.1:p.Asp249Glu
blosum: 2

NM_001202468.1 [CDS]
hgvs_c: NM_001202468.1:c.909C>A
reference AA: D
variant AA: E
reference codon: gaC
variant codon: gaA
cDNA pos: 928
CDS pos: 909
translation impact: non_synonymous
protein sequence: NP_001189397.1
AA pos: 303
hgvs_p: NP_001189397.1:p.Asp303Glu
blosum: 2
SIFT: tolerated (0.45)
PolyPhen2: benign (0.26)

NM_006624.5 [CDS] Reportable
hgvs_c: NM_006624.5:c.909C>A
reference AA: D
variant AA: E
reference codon: gaC
variant codon: gaA
cDNA pos: 1250
CDS pos: 909
translation impact: non_synonymous
protein sequence: NP_006615.2
AA pos: 303
hgvs_p: NP_006615.2:p.Asp303Glu
blosum: 2
SIFT: tolerated (0.33)
PolyPhen2: benign (0.074)

NM_212479.3 [CDS]
hgvs_c: NM_212479.3:c.906C>A
reference AA: D
variant AA: E
reference codon: gaC
variant codon: gaA
cDNA pos: 1334
CDS pos: 906
translation impact: non_synonymous
protein sequence: NP_997644.2
AA pos: 302
hgvs_p: NP_997644.2:p.Asp302Glu
blosum: 2
SIFT: tolerated (0.45)
PolyPhen2: benign (0.075)

Export Variant

Curation

Uncertain Significance