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 computer assertion could be determined for this classification!
Variant: NM_000551.4(VHL):c.477del (p.Glu160fs)
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA020404
182959 (ClinVar)
Gene: VHL
Condition: von Hippel-Lindau disease
Inheritance Mode: Autosomal dominant inheritance
UUID: 45d26de0-d6f0-438e-b530-8ee7a1cd8668
Approved on: 2024-06-25
Published on: 2024-06-25
HGVS expressions
NM_000551.4:c.477del
NM_000551.4(VHL):c.477del (p.Glu160fs)
NC_000003.12:g.10149800del
CM000665.2:g.10149800del
NC_000003.11:g.10191484del
CM000665.1:g.10191484del
NC_000003.10:g.10166484del
NG_008212.3:g.13166del
ENST00000696142.1:c.*154del
ENST00000696143.1:c.613del
ENST00000696153.1:c.588del
ENST00000256474.3:c.477del
ENST00000256474.2:c.477del
ENST00000345392.2:c.354del
ENST00000477538.1:n.613del
NM_000551.3:c.477del
NM_198156.2:c.354del
NM_001354723.1:c.*31del
NM_001354723.2:c.*31del
NM_198156.3:c.354del
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Evidence submitted by expert panel
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