Annotation Detail
Information
- Associated Genes
- MTRR
- Associated Variants
-
MTRR p.Lys350Arg (p.K350R)
(
ENST00000264668.6,
ENST00000440940.7 )
MTRR p.Lys350Arg (p.K350R) ( ENST00000264668.6, ENST00000440940.7 ) - Associated Disease
- gastrointestinal stromal tumor
- Source Database
- ClinVar
- Description
- NM_002454.3(MTRR):c.1049A>G (p.Lys350Arg) AND Gastrointestinal stromal tumor
- ClinVar Allele ID
- 141994
- ClinVar RefSeq Alternation Syntax
- NR_157168.2:n.1102A>G
- ClinVar RefSeq Alternation Syntax
- NR_157172.2:n.988A>G
- ClinVar RefSeq Alternation Syntax
- NM_001364440.2:c.1049A>G
- ClinVar RefSeq Alternation Syntax
- NR_157169.2:n.962A>G
- ClinVar RefSeq Alternation Syntax
- NR_157174.2:n.988A>G
- ClinVar RefSeq Alternation Syntax
- NR_134482.2:n.988A>G
- ClinVar RefSeq Alternation Syntax
- NR_157173.2:n.1116A>G
- ClinVar RefSeq Alternation Syntax
- NM_001364442.2:c.1049A>G
- ClinVar RefSeq Alternation Syntax
- NM_002454.3:c.1049A>G
- ClinVar RefSeq Alternation Syntax
- NM_001364441.2:c.1049A>G
- ClinVar RefSeq Alternation Syntax
- NM_024010.4:c.1049A>G
- ClinVar RefSeq Alternation Syntax
- NR_157170.2:n.1128A>G
- ClinVar RefSeq Alternation Syntax
- NR_157178.2:n.1142A>G
- ClinVar RefSeq Alternation Syntax
- NR_157175.2:n.1142A>G
- ClinVar RefSeq Alternation Syntax
- NR_157171.2:n.962A>G
- ClinVar RefSeq Alternation Syntax
- NR_134481.2:n.1142A>G
- ClinVar RefSeq Alternation Syntax
- NR_134480.2:n.1128A>G
- ClinVar RefSeq Alternation Syntax
- NR_157176.2:n.1282A>G
- ClinVar RefSeq Alternation Syntax
- NR_157177.2:n.1137A>G
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000144925
- ClinVar Disease
- Gastrointestinal stromal tumor
- Observed Origin Sample
- germline
Drugs