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.*1120T>C
CA10647981
320291 (ClinVar)
Gene: CDH1
Condition: CDH1-related diffuse gastric and lobular breast cancer
Inheritance Mode: Autosomal dominant inheritance
UUID: fa98b5d0-1c05-4a83-8e02-8dbb1a7d632f
Approved on: 2023-08-10
Published on: 2023-08-10
HGVS expressions
NM_004360.5:c.*1120T>C
NM_004360.5(CDH1):c.*1120T>C
NC_000016.10:g.68834619T>C
CM000678.2:g.68834619T>C
NC_000016.9:g.68868522T>C
CM000678.1:g.68868522T>C
NC_000016.8:g.67426023T>C
NG_008021.1:g.102328T>C
ENST00000261769.10:c.*1120T>C
ENST00000261769.9:c.*1120T>C
ENST00000566612.5:c.*2009T>C
ENST00000611625.4:c.*1120T>C
ENST00000621016.4:c.*338T>C
NM_004360.3:c.*1120T>C
NM_001317184.1:c.*1120T>C
NM_001317185.1:c.*1120T>C
NM_001317186.1:c.*1120T>C
NM_004360.4:c.*1120T>C
NM_001317184.2:c.*1120T>C
NM_001317185.2:c.*1120T>C
NM_001317186.2:c.*1120T>C
Evidence submitted by expert panel
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