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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- See Evidence submitted by expert panel for details.
Variant: NM_004360.5(CDH1):c.32_34TGC[7] (p.Leu14_Leu15dup)
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA168401
142455 (ClinVar)
Gene: CDH1
Condition: hereditary diffuse gastric cancer
Inheritance Mode: Autosomal dominant inheritance
UUID: 32a09493-4519-46f6-b57a-e60d03a9272e
Approved on: 2020-04-21
Published on: 2020-06-03
HGVS expressions
NM_004360.5:c.32_34TGC[7]
NM_004360.5(CDH1):c.32_34TGC[7] (p.Leu14_Leu15dup)
NC_000016.10:g.68737456_68737461dup
CM000678.2:g.68737456_68737461dup
NC_000016.9:g.68771359_68771364dup
CM000678.1:g.68771359_68771364dup
NC_000016.8:g.67328860_67328865dup
NG_008021.1:g.5165_5170dup
ENST00000261769.10:c.41_46dup
ENST00000261769.9:c.41_46dup
ENST00000422392.6:c.41_46dup
ENST00000566510.5:c.41_46dup
ENST00000566612.5:c.41_46dup
ENST00000611625.4:c.41_46dup
ENST00000612417.4:c.41_46dup
ENST00000621016.4:c.41_46dup
NM_004360.3:c.41_46dup
NM_001317184.1:c.41_46dup
NM_001317185.1:c.-1575_-1570dup
NM_001317186.1:c.-1779_-1774dup
NM_004360.4:c.41_46dup
NM_004360.5:c.41_46dup
NM_001317184.2:c.41_46dup
NM_001317185.2:c.-1575_-1570dup
NM_001317186.2:c.-1779_-1774dup
More
Evidence submitted by expert panel
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