Annotation Detail
Information
- Associated Genes
- TMEM106B
- Associated Variants
-
TMEM106B p.Thr185Ser (p.T185S)
(
ENST00000396667.7,
ENST00000396668.8,
ENST00000444443.6,
ENST00000704348.1,
ENST00000704349.1,
ENST00000704416.1,
ENST00000704417.1,
ENST00000704455.1 )
TMEM106B p.Thr185Ser (p.T185S) ( ENST00000396667.7, ENST00000396668.8, ENST00000444443.6, ENST00000704348.1, ENST00000704349.1, ENST00000704416.1, ENST00000704417.1, ENST00000704455.1 ) - Associated Disease
- Leukodystrophy, hypomyelinating, 16
- Source Database
- ClinVar
- Description
- NM_001134232.2(TMEM106B):c.554C>G (p.Thr185Ser) AND Leukodystrophy, hypomyelinating, 16
- ClinVar Allele ID
- 1155565
- ClinVar RefSeq Alternation Syntax
- NM_018374.4:c.554C>G
- ClinVar RefSeq Alternation Syntax
- NM_001134232.2:c.554C>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2021-09-10
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001838673
- ClinVar Disease
- Leukodystrophy, hypomyelinating, 16
- Observed Origin Sample
- germline
Drugs