Annotation Detail
Information
- Associated Genes
- INS INS-IGF2
- Associated Variants
-
INS p.Thr51= (p.T51=), INS-IGF2 p.Thr51= (p.T51=)
(
ENST00000512523.1,
ENST00000250971.7,
ENST00000397262.5,
ENST00000397270.1,
ENST00000381330.5 )
INS p.Thr51= (p.T51=), INS-IGF2 p.Thr51= (p.T51=) ( ENST00000250971.7, ENST00000381330.5, ENST00000397262.5, ENST00000512523.1, ENST00000397270.1 ) - Associated Disease
- maturity-onset diabetes of the young type 10
- Source Database
- ClinVar
- Description
- NM_000207.3(INS):c.153A>G (p.Thr51=) AND Maturity-onset diabetes of the young type 10
- ClinVar Allele ID
- 313620
- ClinVar RefSeq Alternation Syntax
- NM_001185097.2:c.153A>G
- ClinVar RefSeq Alternation Syntax
- NM_000207.3:c.153A>G
- ClinVar RefSeq Alternation Syntax
- NM_001185098.2:c.153A>G
- ClinVar RefSeq Alternation Syntax
- NM_001042376.3:c.153A>G
- ClinVar RefSeq Alternation Syntax
- NM_001291897.2:c.153A>G
- ClinVar RefSeq Alternation Syntax
- NR_003512.4:n.212A>G
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2017-09-29
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000353376
- ClinVar Disease
- Maturity-onset diabetes of the young type 10
- Observed Origin Sample
- germline
Drugs