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
- 'cspec' property is found but contains no ID!
- No CSPEC computed assertion could be determined for this classification!
- See Evidence submitted by expert panel for details.
Variant: NM_004360.5(CDH1):c.2474dup (p.Pro826fs)
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA658658499
481178 (ClinVar)
Gene: CDH1
Condition: CDH1-related diffuse gastric and lobular breast cancer
Inheritance Mode: Autosomal dominant inheritance
UUID: d92ac761-791e-4dbf-a19a-d7fd110fd456
Approved on: 2023-08-02
Published on: 2023-08-02
HGVS expressions
NM_004360.5:c.2474dup
NM_004360.5(CDH1):c.2474dup (p.Pro826fs)
NC_000016.10:g.68833324dup
CM000678.2:g.68833324dup
NC_000016.9:g.68867227dup
CM000678.1:g.68867227dup
NC_000016.8:g.67424728dup
NG_008021.1:g.101033dup
ENST00000261769.10:c.2474dup
ENST00000261769.9:c.2474dup
ENST00000422392.6:c.2291dup
ENST00000562118.1:n.692dup
ENST00000562836.5:n.2545dup
ENST00000566510.5:c.*1140dup
ENST00000566612.5:c.*714dup
ENST00000611625.4:c.2537dup
ENST00000612417.4:c.1854-867dup
ENST00000621016.4:c.1866-879dup
NM_004360.3:c.2474dup
NM_001317184.1:c.2291dup
NM_001317185.1:c.926dup
NM_001317186.1:c.509dup
NM_004360.4:c.2474dup
NM_001317184.2:c.2291dup
NM_001317185.2:c.926dup
NM_001317186.2:c.509dup
More
Evidence submitted by expert panel
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