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_000215.4(JAK3):c.678_679del (p.Cys227fs)
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA214096
36423 (ClinVar)
Gene: JAK3
Condition: T-B+ severe combined immunodeficiency due to JAK3 deficiency
Inheritance Mode: Autosomal recessive inheritance
UUID: b7631ff0-e33e-4d03-ba36-9006d218111e
Approved on: 2024-01-17
Published on: 2024-01-17
HGVS expressions
NM_000215.4:c.678_679del
NM_000215.4(JAK3):c.678_679del (p.Cys227fs)
NC_000019.10:g.17842498_17842499del
CM000681.2:g.17842498_17842499del
NC_000019.9:g.17953307_17953308del
CM000681.1:g.17953307_17953308del
NC_000019.8:g.17814307_17814308del
NG_007273.1:g.10493_10494del
ENST00000458235.7:c.678_679del
ENST00000458235.5:c.678_679del
ENST00000526008.5:n.778_779del
ENST00000527031.5:n.768_769del
ENST00000527670.5:c.678_679del
ENST00000528293.1:n.1109_1110del
ENST00000528705.1:n.27_28del
ENST00000534444.1:c.678_679del
NM_000215.3:c.678_679del
Evidence submitted by expert panel
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