Annotation Detail
Information
- Associated Genes
- MTRR
- Associated Variants
-
MTRR p.Pro450Arg (p.P450R)
(
ENST00000264668.6,
ENST00000440940.7 )
MTRR p.Pro450Arg (p.P450R) ( ENST00000264668.6, ENST00000440940.7 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_002454.3(MTRR):c.1349C>G (p.Pro450Arg) AND not specified
- ClinVar Allele ID
- 141997
- ClinVar RefSeq Alternation Syntax
- NM_001364440.2:c.1349C>G
- ClinVar RefSeq Alternation Syntax
- NR_157168.2:n.1402C>G
- ClinVar RefSeq Alternation Syntax
- NR_134481.2:n.1353C>G
- ClinVar RefSeq Alternation Syntax
- NM_001364441.2:c.1349C>G
- ClinVar RefSeq Alternation Syntax
- NR_134482.2:n.1288C>G
- ClinVar RefSeq Alternation Syntax
- NR_157173.2:n.1439C>G
- ClinVar RefSeq Alternation Syntax
- NM_001364442.2:c.1349C>G
- ClinVar RefSeq Alternation Syntax
- NR_157176.2:n.1757C>G
- ClinVar RefSeq Alternation Syntax
- NR_157178.2:n.1465C>G
- ClinVar RefSeq Alternation Syntax
- NM_002454.3:c.1349C>G
- ClinVar RefSeq Alternation Syntax
- NR_157169.2:n.1262C>G
- ClinVar RefSeq Alternation Syntax
- NR_157170.2:n.1428C>G
- ClinVar RefSeq Alternation Syntax
- NR_157172.2:n.1199C>G
- ClinVar RefSeq Alternation Syntax
- NR_134480.2:n.1428C>G
- ClinVar RefSeq Alternation Syntax
- NR_157171.2:n.1285C>G
- ClinVar RefSeq Alternation Syntax
- NM_024010.4:c.1349C>G
- ClinVar RefSeq Alternation Syntax
- NR_157174.2:n.1440C>G
- ClinVar RefSeq Alternation Syntax
- NR_157175.2:n.1594C>G
- ClinVar RefSeq Alternation Syntax
- NR_157177.2:n.1437C>G
- 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/RCV000126874
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs