Annotation Detail
Information
- Associated Genes
- IGF2 INS-IGF2
- Associated Variants
-
ENSG00000284779 c.*208_*209insGC, IGF2 c.324_325insGC
(
ENST00000381392.5,
ENST00000381406.8,
ENST00000481781.3,
ENST00000418738.2,
ENST00000434045.6,
ENST00000695541.1,
ENST00000381395.5,
ENST00000416167.7,
ENST00000381389.5 )
ENSG00000284779 c.*208_*209insGC, IGF2 c.324_325insGC ( ENST00000381389.5, ENST00000381392.5, ENST00000381395.5, ENST00000381406.8, ENST00000416167.7, ENST00000418738.2, ENST00000434045.6, ENST00000481781.3, ENST00000695541.1 ) - Associated Disease
- Silver-Russell syndrome 1
- Source Database
- ClinVar
- Description
- NM_000612.6(IGF2):c.157+1_157+2insGC AND Silver-Russell syndrome 1
- ClinVar Allele ID
- 247733
- ClinVar RefSeq Alternation Syntax
- NM_001007139.6:c.157+1_157+2insGC
- ClinVar RefSeq Alternation Syntax
- NM_001291862.3:c.157+1_157+2insGC
- ClinVar RefSeq Alternation Syntax
- NM_001127598.3:c.325+1_325+2insGC
- ClinVar RefSeq Alternation Syntax
- NM_001291861.3:c.157+1_157+2insGC
- ClinVar RefSeq Alternation Syntax
- NM_000612.6:c.157+1_157+2insGC
- Clinical Significance Description
- Pathogenic
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000490875
- ClinVar Disease
- Silver-Russell syndrome 1
- Observed Origin Sample
- paternal
Drugs