The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
[Disclaimer]
- Gene obtained from curated document aligns with the Allele Registry but not with ClinVar data
- No CSPEC computer assertion could be determined for this classification!
Variant: NM_000215.4(JAK3):c.1695C>A (p.Cys565Ter)
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA120303
9363 (ClinVar)
Gene: JAK3
Condition: T-B+ severe combined immunodeficiency due to JAK3 deficiency
Inheritance Mode: Autosomal recessive inheritance
UUID: 155ca4f1-599c-4d45-987f-2978bf275436
Approved on: 2024-06-13
Published on: 2024-06-13
HGVS expressions
NM_000215.4:c.1695C>A
NM_000215.4(JAK3):c.1695C>A (p.Cys565Ter)
NC_000019.10:g.17837938G>T
CM000681.2:g.17837938G>T
NC_000019.9:g.17948747G>T
CM000681.1:g.17948747G>T
NC_000019.8:g.17809747G>T
NG_007273.1:g.15054C>A
ENST00000526008.6:c.*252C>A
ENST00000696967.1:n.872C>A
ENST00000696970.1:n.350C>A
ENST00000458235.7:c.1695C>A
ENST00000458235.5:c.1695C>A
ENST00000527031.5:n.1785C>A
ENST00000527670.5:c.1695C>A
ENST00000534444.1:c.1695C>A
NM_000215.3:c.1695C>A
Evidence submitted by expert panel
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