Gene Variant Detail

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Gene ATRX
Variant M1800fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions ATRX M1800fs results in a change in the amino acid sequence of the Atrx protein beginning at aa 1800 of 2492, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the C-terminal helicase domain (UniProt.org), M1800fs is predicted to lead to a loss of Atrx protein function.
Associated Drug Resistance
Category Variants Paths

ATRX mutant ATRX inact mut ATRX M1800fs

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Transcript NM_000489.6
gDNA chrX:g.(77618856_77618857)
cDNA c.(5398_5397)
Protein p.M1800fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017029610 chrX:g.77599798_77599799insAGTCGGGGGGGGGGGGGGGT c.5398_5399insACCCCCCCCCCCCCCCGACT p.M1800fs*12 RefSeq GRCh38/hg38
XM_006724668.4 chrX:g.(77618856_77618857) c.(5398_5397) p.M1800fs RefSeq GRCh38/hg38
XM_006724668 chrX:g.77618854delC c.5400delG p.M1800fs*12 RefSeq GRCh38/hg38
XM_006724666.4 chrX:g.(77616664_77616665) c.(5398_5397) p.M1800fs RefSeq GRCh38/hg38
XM_047442191.1 chrX:g.(77618856_77618857) c.(5398_5397) p.M1800fs RefSeq GRCh38/hg38
XM_017029607.2 chrX:g.(77600499_77600500) c.(5398_5397) p.M1800fs RefSeq GRCh38/hg38
XM_017029610.1 chrX:g.(77599799_77599800) c.(5398_5397) p.M1800fs RefSeq GRCh38/hg38
XM_006724666.5 chrX:g.(77616664_77616665) c.(5398_5397) p.M1800fs RefSeq GRCh38/hg38
XM_005262155.4 chrX:g.(77616664_77616665) c.(5398_5397) p.M1800fs RefSeq GRCh38/hg38
NM_000489.6 chrX:g.(77618856_77618857) c.(5398_5397) p.M1800fs RefSeq GRCh38/hg38
NM_000489 chrX:g.77618854delC c.5400delG p.M1800fs*12 RefSeq GRCh38/hg38
NM_000489.4 chrX:g.(77618856_77618857) c.(5398_5397) p.M1800fs RefSeq GRCh38/hg38
XM_005262155 chrX:g.77616663_77616666delATTC c.5398_5401delATGA p.M1800fs*12 RefSeq GRCh38/hg38
XM_006724666 chrX:g.77616663_77616666delATTC c.5398_5401delATGA p.M1800fs*12 RefSeq GRCh38/hg38
XM_017029607 chrX:g.77600497_77600498insCGGGGGGGGGGGGGGGGGGGGGCTA c.5399_5400insTAGCCCCCCCCCCCCCCCCCCCCCG p.M1800fs*12 RefSeq GRCh38/hg38
XM_006724668.3 chrX:g.(77618856_77618857) c.(5398_5397) p.M1800fs RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References