Annotation Detail
Information
- Associated Genes
- MTRR
- Associated Variants
-
MTRR p.Ser175Leu (p.S175L)
(
ENST00000264668.6,
ENST00000440940.7 )
MTRR p.Ser175Leu (p.S175L) ( ENST00000264668.6, ENST00000440940.7 ) - Associated Disease
- Methylcobalamin deficiency type cblE
- Source Database
- ClinVar
- Description
- NM_002454.3(MTRR):c.524C>T (p.Ser175Leu) AND Methylcobalamin deficiency type cblE
- ClinVar Allele ID
- 142007
- ClinVar RefSeq Alternation Syntax
- NR_157172.2:n.463C>T
- ClinVar RefSeq Alternation Syntax
- NR_157178.2:n.617C>T
- ClinVar RefSeq Alternation Syntax
- NR_157169.2:n.437C>T
- ClinVar RefSeq Alternation Syntax
- NR_134480.2:n.603C>T
- ClinVar RefSeq Alternation Syntax
- NM_001364441.2:c.524C>T
- ClinVar RefSeq Alternation Syntax
- NR_157174.2:n.463C>T
- ClinVar RefSeq Alternation Syntax
- NR_157168.2:n.577C>T
- ClinVar RefSeq Alternation Syntax
- NR_157170.2:n.463C>T
- ClinVar RefSeq Alternation Syntax
- NR_157176.2:n.617C>T
- ClinVar RefSeq Alternation Syntax
- NM_024010.4:c.524C>T
- ClinVar RefSeq Alternation Syntax
- NR_157171.2:n.437C>T
- ClinVar RefSeq Alternation Syntax
- NM_001364440.2:c.524C>T
- ClinVar RefSeq Alternation Syntax
- NR_134482.2:n.463C>T
- ClinVar RefSeq Alternation Syntax
- NR_157173.2:n.591C>T
- ClinVar RefSeq Alternation Syntax
- NR_157175.2:n.617C>T
- ClinVar RefSeq Alternation Syntax
- NM_001364442.2:c.524C>T
- ClinVar RefSeq Alternation Syntax
- NR_134481.2:n.617C>T
- ClinVar RefSeq Alternation Syntax
- NR_157177.2:n.612C>T
- ClinVar RefSeq Alternation Syntax
- NM_002454.3:c.524C>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-02-01
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001274256
- ClinVar Disease
- Methylcobalamin deficiency type cblE
- Observed Origin Sample
- germline
Drugs