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_001033855.3(DCLRE1C):c.1669dup (p.Thr557fs)
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA10586372
254216 (ClinVar)
Gene: DCLRE1C
Condition: severe combined immunodeficiency due to DCLRE1C deficiency
Inheritance Mode: Autosomal recessive inheritance
UUID: 3a961714-b3e6-4725-8cdd-42ab2ce1a714
Approved on: 2024-01-17
Published on: 2024-01-17
HGVS expressions
NM_001033855.3:c.1669dup
NM_001033855.3(DCLRE1C):c.1669dup (p.Thr557fs)
NC_000010.11:g.14908818dup
CM000672.2:g.14908818dup
NC_000010.10:g.14950817dup
CM000672.1:g.14950817dup
NC_000010.9:g.14990823dup
NG_007276.1:g.50278dup
ENST00000378278.7:c.1669dup
ENST00000357717.6:c.1324dup
ENST00000378242.1:c.628dup
ENST00000378246.6:c.1324dup
ENST00000378249.5:c.1324dup
ENST00000378254.5:c.1309dup
ENST00000378255.5:c.1309dup
ENST00000378258.5:c.1309dup
ENST00000378278.6:c.1669dup
ENST00000378289.8:c.1157-9506dup
ENST00000396817.6:c.1309dup
ENST00000492201.5:n.884dup
NM_001033855.2:c.1669dup
NM_001033857.2:c.1309dup
NM_001033858.2:c.1309dup
NM_001289076.1:c.1324dup
NM_001289077.1:c.1309dup
NM_001289078.1:c.1324dup
NM_001289079.1:c.1309dup
NM_022487.3:c.1324dup
NR_110297.1:n.2444dup
NM_001350965.1:c.1669dup
NM_001350966.1:c.1324dup
NM_001350967.1:c.1309dup
NR_146960.1:n.2036dup
NR_146961.1:n.2185dup
NR_146962.1:n.2156dup
NM_001033857.3:c.1309dup
NM_001033858.3:c.1309dup
NM_001289076.2:c.1324dup
NM_001289077.2:c.1309dup
NM_001289078.2:c.1324dup
NM_001289079.2:c.1309dup
NM_001350965.2:c.1669dup
NM_001350966.2:c.1324dup
NM_001350967.2:c.1309dup
NM_022487.4:c.1324dup
NR_110297.2:n.2108dup
NR_146961.2:n.1849dup
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Evidence submitted by expert panel
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