Annotation Detail
Information
- Associated Genes
- MTRR
- Associated Variants
-
MTRR p.Arg415Cys (p.R415C)
(
ENST00000264668.6,
ENST00000440940.7 )
MTRR p.Arg415Cys (p.R415C) ( ENST00000264668.6, ENST00000440940.7 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_002454.3(MTRR):c.1243C>T (p.Arg415Cys) AND not specified
- ClinVar Allele ID
- 141996
- ClinVar RefSeq Alternation Syntax
- NR_157177.2:n.1331C>T
- ClinVar RefSeq Alternation Syntax
- NR_157168.2:n.1296C>T
- ClinVar RefSeq Alternation Syntax
- NR_157173.2:n.1333C>T
- ClinVar RefSeq Alternation Syntax
- NR_157169.2:n.1156C>T
- ClinVar RefSeq Alternation Syntax
- NM_002454.3:c.1243C>T
- ClinVar RefSeq Alternation Syntax
- NR_157171.2:n.1179C>T
- ClinVar RefSeq Alternation Syntax
- NR_157178.2:n.1359C>T
- ClinVar RefSeq Alternation Syntax
- NM_001364441.2:c.1243C>T
- ClinVar RefSeq Alternation Syntax
- NM_001364442.2:c.1243C>T
- ClinVar RefSeq Alternation Syntax
- NM_024010.4:c.1243C>T
- ClinVar RefSeq Alternation Syntax
- NR_157170.2:n.1322C>T
- ClinVar RefSeq Alternation Syntax
- NR_157175.2:n.1336C>T
- ClinVar RefSeq Alternation Syntax
- NR_157174.2:n.1182C>T
- ClinVar RefSeq Alternation Syntax
- NR_134482.2:n.1182C>T
- ClinVar RefSeq Alternation Syntax
- NM_001364440.2:c.1243C>T
- ClinVar RefSeq Alternation Syntax
- NR_134480.2:n.1322C>T
- ClinVar RefSeq Alternation Syntax
- NR_134481.2:n.1247C>T
- ClinVar RefSeq Alternation Syntax
- NR_157172.2:n.1093C>T
- ClinVar RefSeq Alternation Syntax
- NR_157176.2:n.1499C>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2014-01-23
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000126872
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs