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_001126049.1(KLLN):c.-792C>T
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA287473
127663 (ClinVar)
Gene: KLLN
Condition: PTEN hamartoma tumor syndrome
Inheritance Mode: Autosomal dominant inheritance
UUID: aa743dc5-7454-4c3d-8c57-501fefb597f1
Approved on: 2020-03-23
Published on: 2020-03-30
HGVS expressions
NM_001126049.1:c.-792C>T
NM_001126049.1(KLLN):c.-792C>T
NC_000010.11:g.87863279G>A
CM000672.2:g.87863279G>A
NC_000010.10:g.89623036G>A
CM000672.1:g.89623036G>A
NC_000010.9:g.89613016G>A
NG_007466.2:g.4842G>A
NG_033079.1:g.5159C>T
ENST00000371953.7:c.-1191G>A
ENST00000445946.3:c.-792C>T
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Evidence submitted by expert panel
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