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Gene MLH1
Variant T45_I47delinsCF
Impact List indel
Protein Effect loss of function
Gene Variant Descriptions MLH1 T45_I47delinsCF results in a deletion of three amino acids within the ATPase domain of the Mlh1 protein (PMID: 22753075) from aa 45 to aa 47, combined with the insertion of an cysteine (C) and a phenylalanine (F) at the same site. T45_I47delinsCF confers a loss of function on the Mlh1 protein as demonstrated by reduced mismatch repair activity (MMR) in an in vitro assay, altered subcellular localization, and reduced protein expression as compared to wild-type (PMID: 21120944).
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 inact mut MLH1 T45_I47delinsCF

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Transcript NM_000249.4
gDNA chr3:g.36996635_36996643delinsTGTTTT
cDNA c.133_141delinsTGTTTT
Protein p.T45_I47delinsCF
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005265161.3 chr3:g.36996635_36996643delinsTGTTTT c.133_141delinsTGTTTT p.T45_I47delinsCF RefSeq GRCh38/hg38
NM_000249.4 chr3:g.36996635_36996643delinsTGTTTT c.133_141delinsTGTTTT p.T45_I47delinsCF RefSeq GRCh38/hg38
NM_001354629.2 chr3:g.36996635_36996643delinsTGTTTT c.133_141delinsTGTTTT p.T45_I47delinsCF RefSeq GRCh38/hg38
NM_001354630.2 chr3:g.36996635_36996643delinsTGTTTT c.133_141delinsTGTTTT p.T45_I47delinsCF RefSeq GRCh38/hg38
NM_001258271 chr3:g.36996635_36996643delinsTGTTTT c.133_141delinsTGTTTT p.T45_I47delinsCF RefSeq GRCh38/hg38
XM_005265161.2 chr3:g.36996635_36996643delinsTGTTTT c.133_141delinsTGTTTT p.T45_I47delinsCF RefSeq GRCh38/hg38
NM_001354628.2 chr3:g.36996635_36996643delinsTGTTTT c.133_141delinsTGTTTT p.T45_I47delinsCF RefSeq GRCh38/hg38
NM_001354629.1 chr3:g.36996635_36996643delinsTGTTTT c.133_141delinsTGTTTT p.T45_I47delinsCF RefSeq GRCh38/hg38
NM_000249 chr3:g.36996635_36996643delinsTGTTTT c.133_141delinsTGTTTT p.T45_I47delinsCF RefSeq GRCh38/hg38
XM_005265161 chr3:g.36996635_36996643delinsTGTTTT c.133_141delinsTGTTTT p.T45_I47delinsCF RefSeq GRCh38/hg38
NM_001258271.1 chr3:g.36996635_36996643delinsTGTTTT c.133_141delinsTGTTTT p.T45_I47delinsCF RefSeq GRCh38/hg38
NM_001258271.2 chr3:g.36996635_36996643delinsTGTTTT c.133_141delinsTGTTTT p.T45_I47delinsCF RefSeq GRCh38/hg38
NM_000249.3 chr3:g.36996635_36996643delinsTGTTTT c.133_141delinsTGTTTT p.T45_I47delinsCF RefSeq GRCh38/hg38
NM_001354628.1 chr3:g.36996635_36996643delinsTGTTTT c.133_141delinsTGTTTT p.T45_I47delinsCF RefSeq GRCh38/hg38
NM_001354630.1 chr3:g.36996635_36996643delinsTGTTTT c.133_141delinsTGTTTT p.T45_I47delinsCF RefSeq GRCh38/hg38

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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