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.376G>A (p.Asp126Asn)
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA020313
141044 (ClinVar)
Gene: VHL
Condition: von Hippel-Lindau disease
Inheritance Mode: Autosomal dominant inheritance
UUID: 4bbaddce-62df-48bb-887c-dfc95d16ce87
Approved on: 2024-06-25
Published on: 2024-06-25
HGVS expressions
NM_000551.4:c.376G>A
NM_000551.4(VHL):c.376G>A (p.Asp126Asn)
NC_000003.12:g.10146549G>A
CM000665.2:g.10146549G>A
NC_000003.11:g.10188233G>A
CM000665.1:g.10188233G>A
NC_000003.10:g.10163233G>A
NG_008212.3:g.9915G>A
ENST00000696142.1:c.*53G>A
ENST00000696143.1:c.600-3238G>A
ENST00000696153.1:c.376G>A
ENST00000256474.3:c.376G>A
ENST00000256474.2:c.376G>A
ENST00000345392.2:c.341-3238G>A
ENST00000477538.1:n.512G>A
NM_000551.3:c.376G>A
NM_198156.2:c.341-3238G>A
NM_001354723.1:c.*18-3238G>A
NM_001354723.2:c.*18-3238G>A
NM_198156.3:c.341-3238G>A
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Evidence submitted by expert panel
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