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.1390del (p.Val464fs)
CA658658488
483271 (ClinVar)
Gene: CDH1
Condition: CDH1-related diffuse gastric and lobular breast cancer
Inheritance Mode: Autosomal dominant inheritance
UUID: 6ce63663-2faf-44c1-ae7d-bd550b9c28d2
HGVS expressions
NM_004360.5:c.1390del
NM_004360.5(CDH1):c.1390del (p.Val464fs)
NC_000016.10:g.68815584del
CM000678.2:g.68815584del
NC_000016.9:g.68849487del
CM000678.1:g.68849487del
NC_000016.8:g.67406988del
NG_008021.1:g.83293del
ENST00000261769.10:c.1390del
ENST00000261769.9:c.1390del
ENST00000422392.6:c.1207del
ENST00000562836.5:n.1461del
ENST00000566510.5:c.*56del
ENST00000566612.5:c.1390del
ENST00000611625.4:c.1453del
ENST00000612417.4:c.1390del
ENST00000621016.4:c.1390del
NM_004360.3:c.1390del
NM_001317184.1:c.1207del
NM_001317185.1:c.-159del
NM_001317186.1:c.-430del
NM_004360.4:c.1390del
NM_001317184.2:c.1207del
NM_001317185.2:c.-159del
NM_001317186.2:c.-430del
Evidence submitted by expert panel
Approved on: 2023-08-04
Published on: 2023-08-04
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