Annotation Detail
Information
- Associated Genes
- MTRR
- Associated Variants
-
MTRR p.His595Tyr (p.H595Y)
(
ENST00000264668.6,
ENST00000440940.7 )
MTRR p.His595Tyr (p.H595Y) ( ENST00000264668.6, ENST00000440940.7 ) - Associated Disease
- Disorders of Intracellular Cobalamin Metabolism
- Source Database
- ClinVar
- Description
- NM_002454.3(MTRR):c.1783C>T (p.His595Tyr) AND Disorders of Intracellular Cobalamin Metabolism
- ClinVar Allele ID
- 142003
- ClinVar RefSeq Alternation Syntax
- NR_157174.2:n.1874C>T
- ClinVar RefSeq Alternation Syntax
- NR_157169.2:n.1696C>T
- ClinVar RefSeq Alternation Syntax
- NR_157173.2:n.1873C>T
- ClinVar RefSeq Alternation Syntax
- NR_157175.2:n.2028C>T
- ClinVar RefSeq Alternation Syntax
- NR_157177.2:n.1871C>T
- ClinVar RefSeq Alternation Syntax
- NM_001364441.2:c.1783C>T
- ClinVar RefSeq Alternation Syntax
- NR_157178.2:n.1899C>T
- ClinVar RefSeq Alternation Syntax
- NM_002454.3:c.1783C>T
- ClinVar RefSeq Alternation Syntax
- NM_024010.4:c.1783C>T
- ClinVar RefSeq Alternation Syntax
- NR_157170.2:n.1862C>T
- ClinVar RefSeq Alternation Syntax
- NR_157171.2:n.1719C>T
- ClinVar RefSeq Alternation Syntax
- NM_001364442.2:c.1783C>T
- ClinVar RefSeq Alternation Syntax
- NR_134482.2:n.1722C>T
- ClinVar RefSeq Alternation Syntax
- NR_157176.2:n.2191C>T
- ClinVar RefSeq Alternation Syntax
- NR_134480.2:n.1862C>T
- ClinVar RefSeq Alternation Syntax
- NR_134481.2:n.1787C>T
- ClinVar RefSeq Alternation Syntax
- NM_001364440.2:c.1783C>T
- ClinVar RefSeq Alternation Syntax
- NR_157172.2:n.1633C>T
- ClinVar RefSeq Alternation Syntax
- NR_157168.2:n.1836C>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2018-03-06
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000302798
- ClinVar Disease
- Disorders of Intracellular Cobalamin Metabolism
- Observed Origin Sample
- germline
Drugs