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_004985.4(KRAS):c.531_533delGAA (p.Lys180del)
CA135584
45129 (ClinVar)
Gene: KRAS
Condition: RASopathy
Inheritance Mode: Autosomal dominant inheritance
UUID: 54ddcd15-893f-4be1-9525-18126097d55a
Approved on: 2017-04-03
Published on: 2018-12-10
HGVS expressions
NM_004985.4:c.531_533delGAA
NM_004985.4(KRAS):c.531_533delGAA (p.Lys180del)
NM_004985.4:c.531_533del
NM_033360.3:c.*85_*87del
ENST00000256078.8:c.*85_*87del
ENST00000311936.7:c.531_533del
ENST00000557334.5:c.192_194del
NC_000012.12:g.25209834_25209836del
CM000674.2:g.25209834_25209836del
NC_000012.11:g.25362768_25362770del
CM000674.1:g.25362768_25362770del
NC_000012.10:g.25254035_25254037del
NG_007524.1:g.46090_46092del
Evidence submitted by expert panel
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