The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
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Variant: NM_004360.5(CDH1):c.11G>A (p.Trp4Ter)
- Curation Version - 2.0
- Curation History
- JSON LD for Version 2.0
CA396451240
918853 (ClinVar)
Gene: CDH1
Condition: CDH1-related diffuse gastric and lobular breast cancer
Inheritance Mode: Autosomal dominant inheritance
UUID: 779fb7a8-6e03-4a37-bab2-3eee5f80110f
Approved on: 2023-08-04
Published on: 2023-08-04
HGVS expressions
NM_004360.5:c.11G>A
NM_004360.5(CDH1):c.11G>A (p.Trp4Ter)
NC_000016.10:g.68737426G>A
CM000678.2:g.68737426G>A
NC_000016.9:g.68771329G>A
CM000678.1:g.68771329G>A
NC_000016.8:g.67328830G>A
NG_008021.1:g.5135G>A
ENST00000261769.10:c.11G>A
ENST00000261769.9:c.11G>A
ENST00000422392.6:c.11G>A
ENST00000566510.5:c.11G>A
ENST00000566612.5:c.11G>A
ENST00000611625.4:c.11G>A
ENST00000612417.4:c.11G>A
ENST00000621016.4:c.11G>A
NM_004360.3:c.11G>A
NM_001317184.1:c.11G>A
NM_001317185.1:c.-1605G>A
NM_001317186.1:c.-1809G>A
NM_004360.4:c.11G>A
NM_001317184.2:c.11G>A
NM_001317185.2:c.-1605G>A
NM_001317186.2:c.-1809G>A
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Evidence submitted by expert panel
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