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.-45C>T
CA16620225
421431 (ClinVar)
Gene: CDH1
Condition: CDH1-related diffuse gastric and lobular breast cancer
Inheritance Mode: Autosomal dominant inheritance
UUID: a071fe2b-028d-48f5-bc98-f649a4181201
Approved on: 2023-08-21
Published on: 2023-08-21
HGVS expressions
NM_004360.5:c.-45C>T
NM_004360.5(CDH1):c.-45C>T
NC_000016.10:g.68737371C>T
CM000678.2:g.68737371C>T
NC_000016.9:g.68771274C>T
CM000678.1:g.68771274C>T
NC_000016.8:g.67328775C>T
NG_008021.1:g.5080C>T
ENST00000261769.10:c.-45C>T
ENST00000261769.9:c.-45C>T
ENST00000422392.6:c.-45C>T
ENST00000566510.5:c.-45C>T
ENST00000566612.5:c.-45C>T
ENST00000611625.4:c.-45C>T
ENST00000612417.4:c.-45C>T
ENST00000621016.4:c.-45C>T
NM_004360.3:c.-45C>T
NM_001317184.1:c.-45C>T
NM_001317185.1:c.-1660C>T
NM_001317186.1:c.-1864C>T
NM_004360.4:c.-45C>T
NM_001317184.2:c.-45C>T
NM_001317185.2:c.-1660C>T
NM_001317186.2:c.-1864C>T
Evidence submitted by expert panel
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