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_001369369.1(FOXN1):c.1201_1216del (p.Pro401fs)
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA16620352
418218 (ClinVar)
Gene: FOXN1
Condition: T-cell immunodeficiency, congenital alopecia, and nail dystrophy
Inheritance Mode: Semidominant inheritance
UUID: cdf82ba5-1671-4aa3-9bd9-1463be074b0f
Approved on: 2024-07-29
Published on: 2024-07-29
HGVS expressions
NM_001369369.1:c.1201_1216del
NM_001369369.1(FOXN1):c.1201_1216del (p.Pro401fs)
NC_000017.11:g.28534772_28534787del
CM000679.2:g.28534772_28534787del
NC_000017.10:g.26861790_26861805del
CM000679.1:g.26861790_26861805del
NC_000017.9:g.23885917_23885932del
NG_007260.1:g.15832_15847del
ENST00000577936.2:c.1201_1216del
ENST00000579795.6:c.1201_1216del
ENST00000226247.2:c.1201_1216del
ENST00000481916.6:c.*1195+69277_*1195+69292del
ENST00000579795.5:c.1201_1216del
NM_003593.2:c.1201_1216del
NM_003593.3:c.1201_1216del
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Evidence submitted by expert panel
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