Annotation Detail
Information
- Associated Genes
- GLB1 TMPPE LOC129936434
- Associated Variants
-
TMPPE c.-400G>C, GLB1 c.75+1G>C
(
ENST00000307363.10,
ENST00000307377.12,
ENST00000342462.5 )
TMPPE c.-400G>C, GLB1 c.75+1G>C ( ENST00000307363.10, ENST00000307377.12, ENST00000342462.5 ) - Associated Disease
- GM1 gangliosidosis
- Source Database
- ClinVar
- Description
- NM_000404.4(GLB1):c.75+1G>C AND GM1 gangliosidosis
- ClinVar Allele ID
- 98820
- ClinVar RefSeq Alternation Syntax
- NM_001135602.3:c.75+1G>C
- ClinVar RefSeq Alternation Syntax
- NM_000404.4:c.75+1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001317040.2:c.75+1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001039770.3:c.-400G>C
- ClinVar RefSeq Alternation Syntax
- NM_001393580.1:c.75+1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001136238.2:c.-296G>C
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2017-07-13
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000778694
- ClinVar Disease
- GM1 gangliosidosis
- Observed Origin Sample
- germline
Drugs