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_024675.3(PALB2):c.2027T>C (p.Ile676Thr)
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA294362
142310 (ClinVar)
Gene: PALB2
Condition: hereditary breast cancer
Inheritance Mode: Autosomal dominant inheritance
UUID: 09e52437-a25c-47bf-bb56-3a3aeed7872d
Approved on: 2023-04-05
Published on: 2023-04-07
HGVS expressions
NM_024675.3:c.2027T>C
NM_024675.3(PALB2):c.2027T>C (p.Ile676Thr)
NC_000016.10:g.23630127A>G
CM000678.2:g.23630127A>G
NC_000016.9:g.23641448A>G
CM000678.1:g.23641448A>G
NC_000016.8:g.23548949A>G
NG_007406.1:g.16231T>C
ENST00000261584.9:c.2027T>C
ENST00000261584.8:c.2027T>C
ENST00000565038.1:n.87-852T>C
ENST00000568219.5:c.1142T>C
NM_024675.4:c.2027T>C
NM_024675.4(PALB2):c.2027T>C (p.Ile676Thr)
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Evidence submitted by expert panel
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