Information on subject 101028

Basic details

Sex: Female

Country: Germany

Population: German

Family ID: 210750

Father:

Mother:

Consanguinity: No

Clin. status: Affected

Age of death:

Code	Condition's_name	MOI [ℹ]	AD/AS	AFM	Validity [ℹ]

Gene	Var.name ⓘ	Exon/Intron	CDS_change	Prot.change	Var.type	Var.class	Zygosity	Relevant
NOTCH2	V1667I	EX27	c.4999G>A	p.Val1667Ile	missense_variant	Likely Benign	HET	Unlikely
MSH2	N596S	EX12	c.1787A>G	p.Asn596Ser	missense_variant	Likely Benign	HET	Unlikely
TRAF3IP2	D19N	EX3	c.55G>A	p.Asp19Asn	missense_variant	Risk allele	HET	Uncertain
PIK3CD	E522G	EX13	c.1565A>G	p.Glu522Gly	missense_variant	Uncertain significance	lowAF	Uncertain
SYK	G388C	EX9	c.1162G>T	p.Gly388Cys	missense_variant	Likely Benign	WT	No
TNFRSF13B	S123T	EX3	c.368G>C	p.Ser123Thr	missense_variant	Uncertain significance	HET	Uncertain
TCF3	K101R	EX6	c.302A>G	p.Lys101Arg	missense_variant	Likely Benign	HET	Unlikely

Age	Sign/Symptom	Present?	Severity	Presentation
Unk.	Hypogammaglobulinemia	Yes
42.00	Decreased IgG levels	Yes
42.00	Increased IgM levels	Yes
Unk.	Sinusitis	Yes		chronic
Unk.	Arthralgia	Yes
Unk.	Myalgia	Yes
65.58	Antiphospholipid antibody positive	Yes
65.58	Rheumatoid factor positive	No
Unk.	Polyneuropathy	Yes
Unk.	Varicella zoster virus infection	Yes	severe
Unk.	Measles	Yes
Unk.	Rubella	Yes

Age	Cell_type	Cells/ul	Ref.range	Relative(%)	Ref.range(%)	Result

* Measured under treatment or HSCT.

Age	Molecule[ℹ]	Value	Ref.range	Result

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* Measured during IVIG or other treatment.

Age	Parameter[ℹ]	Result*	Cells	Methods[ℹ]	Stimuli	Ref.

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* Compared to WT controls
📊 shows raw values on hover