Annotation Detail
Information
- Associated Genes
- IGF2 INS-IGF2
- Associated Variants
-
ENSG00000284779 c.*79delG, IGF2 p.Met65IlefsTer51 (p.M65Ifs*51)
(
ENST00000481781.3,
ENST00000418738.2,
ENST00000381406.8,
ENST00000381392.5,
ENST00000416167.7,
ENST00000381389.5,
ENST00000381395.5,
ENST00000434045.6,
ENST00000695541.1 )
ENSG00000284779 c.*79delG, IGF2 p.Met65IlefsTer51 (p.M65Ifs*51) ( ENST00000381389.5, ENST00000381392.5, ENST00000381395.5, ENST00000381406.8, ENST00000416167.7, ENST00000418738.2, ENST00000434045.6, ENST00000481781.3, ENST00000695541.1 ) - Associated Disease
- Silver-Russell syndrome 3
- Source Database
- ClinVar
- Description
- NM_000612.6(IGF2):c.27del (p.Met9fs) AND Silver-Russell syndrome 3
- ClinVar Allele ID
- 964361
- ClinVar RefSeq Alternation Syntax
- NM_001127598.3:c.195del
- ClinVar RefSeq Alternation Syntax
- NM_001291862.3:c.27del
- ClinVar RefSeq Alternation Syntax
- NM_001007139.6:c.27del
- ClinVar RefSeq Alternation Syntax
- NR_003512.4:n.741del
- ClinVar RefSeq Alternation Syntax
- NM_000612.6:c.27del
- ClinVar RefSeq Alternation Syntax
- NM_001291861.3:c.27del
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2017-02-22
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001253454
- ClinVar Disease
- Silver-Russell syndrome 3
- Observed Origin Sample
- germline
Drugs