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Gene | RET |
Variant | A883X |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | RET A883X indicates any Ret missense mutation that results in replacement of the alanine (A) at amino acid 883 by a different amino acid. |
Associated Drug Resistance | |
Category Variants Paths |
RET mutant RET A883X |
Transcript | NM_020975.6 |
gDNA | chr10:g.43120120_43120122 |
cDNA | c.2647_2649 |
Protein | p.A883 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_020630 | chr10:g.43120120_43120122 | c.2647_2649 | p.A883 | RefSeq | GRCh38/hg38 |
NM_001406760.1 | chr10:g.43120120_43120122 | c.2647_2649 | p.A883 | RefSeq | GRCh38/hg38 |
NM_020630.5 | chr10:g.43120120_43120122 | c.2647_2649 | p.A883 | RefSeq | GRCh38/hg38 |
NM_020975 | chr10:g.43120120_43120122 | c.2647_2649 | p.A883 | RefSeq | GRCh38/hg38 |
NM_001406744.1 | chr10:g.43120120_43120122 | c.2647_2649 | p.A883 | RefSeq | GRCh38/hg38 |
NM_020975.6 | chr10:g.43120120_43120122 | c.2647_2649 | p.A883 | RefSeq | GRCh38/hg38 |
NM_001406759.1 | chr10:g.43120120_43120122 | c.2647_2649 | p.A883 | RefSeq | GRCh38/hg38 |
NM_020630.7 | chr10:g.43120120_43120122 | c.2647_2649 | p.A883 | RefSeq | GRCh38/hg38 |
NM_001406743.1 | chr10:g.43120120_43120122 | c.2647_2649 | p.A883 | RefSeq | GRCh38/hg38 |
NM_020975.5 | chr10:g.43120120_43120122 | c.2647_2649 | p.A883 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
RET A883X | medullary thyroid carcinoma | not applicable | N/A | Guideline | Risk Factor | Germline RET A883X mutations result in multiple endocrine neoplasia, type 2B (MEN 2B), which is associated with high risk of developing thyroid medullary carcinoma (NCCN.org). | detail... |