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_004360.3(CDH1):c.521dupA (p.Asn174Lysfs)
- Curation Version - 2.0
- Curation History
- JSON LD for Version 2.0
CA163603
140803 (ClinVar)
Gene: CDH1
Condition: CDH1-related diffuse gastric and lobular breast cancer
Inheritance Mode: Autosomal dominant inheritance
UUID: 7f7ae9a1-f6ed-4488-abe5-18ab7289bf2b
Approved on: 2023-08-25
Published on: 2023-08-25
HGVS expressions
NM_004360.3:c.521dupA
NM_004360.3(CDH1):c.521dupA (p.Asn174Lysfs)
NC_000016.10:g.68808557dup
CM000678.2:g.68808557dup
NC_000016.9:g.68842460dup
CM000678.1:g.68842460dup
NC_000016.8:g.67399961dup
NG_008021.1:g.76266dup
ENST00000261769.10:c.521dup
ENST00000261769.9:c.521dup
ENST00000422392.6:c.521dup
ENST00000561751.1:n.288dup
ENST00000562836.5:n.592dup
ENST00000564676.5:n.803dup
ENST00000564745.1:n.516dup
ENST00000566510.5:c.521dup
ENST00000566612.5:c.521dup
ENST00000567320.1:n.31dup
ENST00000611625.4:c.521dup
ENST00000612417.4:c.521dup
ENST00000621016.4:c.521dup
NM_004360.3:c.521dup
NM_001317184.1:c.521dup
NM_001317185.1:c.-1095dup
NM_001317186.1:c.-1299dup
NM_004360.4:c.521dup
NM_004360.5:c.521dup
NM_001317184.2:c.521dup
NM_001317185.2:c.-1095dup
NM_001317186.2:c.-1299dup
NM_004360.5(CDH1):c.521dup (p.Asn174fs)
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Evidence submitted by expert panel
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