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_002834.4(PTPN11):c.188A>G (p.Tyr63Cys)
CA220146
13333 (ClinVar)
Gene: PTPN11
Condition: Noonan syndrome
Inheritance Mode: Autosomal dominant inheritance
UUID: 579af108-04e2-4cf7-9a40-35cbaa82b116
Approved on: 2017-04-03
Published on: 2019-07-15
HGVS expressions
NM_002834.4:c.188A>G
NM_002834.4(PTPN11):c.188A>G (p.Tyr63Cys)
NC_000012.12:g.112450368A>G
CM000674.2:g.112450368A>G
NC_000012.11:g.112888172A>G
CM000674.1:g.112888172A>G
NC_000012.10:g.111372555A>G
NG_007459.1:g.36637A>G
NM_002834.3:c.188A>G
NM_080601.1:c.188A>G
NM_001330437.1:c.188A>G
NM_080601.2:c.188A>G
ENST00000351677.6:c.188A>G
ENST00000392597.5:c.188A>G
ENST00000635625.1:n.188A>G
Evidence submitted by expert panel
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