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_002755.3(MAP2K1):c.1098T>C (p.Ala366=)
CA7624163
448949 (ClinVar)
Gene: MAP2K1
Condition: RASopathy
Inheritance Mode: Autosomal dominant inheritance
UUID: 9581cc43-8005-4a02-8e31-2c7cb18c67df
Approved on: 2017-05-09
Published on: 2018-12-10
HGVS expressions
NM_002755.3:c.1098T>C
NM_002755.3(MAP2K1):c.1098T>C (p.Ala366=)
NC_000015.10:g.66490531T>C
CM000677.2:g.66490531T>C
NC_000015.9:g.66782869T>C
CM000677.1:g.66782869T>C
NC_000015.8:g.64569923T>C
NG_008305.1:g.108659T>C
NG_051234.1:g.12285A>G
NM_006049.2:c.*208A>G
NM_006049.3:c.*208A>G
NR_138061.1:n.727A>G
ENST00000307102.9:c.1098T>C
ENST00000395589.6:c.*208A>G
ENST00000563480.6:c.*208A>G
ENST00000566326.1:c.570T>C
Evidence submitted by expert panel
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