The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
[Disclaimer]
- Gene obtained from curated document aligns with the Allele Registry but not with ClinVar data
- No CSPEC computed assertion could be determined for this classification!
Variant: NM_006939.4(SOS2):c.3755_3757del (p.Ile1252del)
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA7176713
445735 (ClinVar)
Gene: SOS2
Condition: RASopathy
Inheritance Mode: Autosomal dominant inheritance
UUID: 37ca3170-6c30-4ded-a943-695ee2052510
Approved on: 2024-09-17
Published on: 2024-10-01
HGVS expressions
NM_006939.4:c.3755_3757del
NM_006939.4(SOS2):c.3755_3757del (p.Ile1252del)
NC_000014.9:g.50118587_50118589del
CM000676.2:g.50118587_50118589del
NC_000014.8:g.50585305_50585307del
CM000676.1:g.50585305_50585307del
NC_000014.7:g.49655055_49655057del
NG_051073.1:g.118106_118108del
ENST00000216373.10:c.3755_3757del
ENST00000216373.9:c.3755_3757del
ENST00000543680.5:c.3656_3658del
NM_006939.2:c.3755_3757del
NM_006939.3:c.3755_3757del
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Evidence submitted by expert panel
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