Full data view for gene CNTN2

Information The variants shown are described using the NM_005076.3 transcript reference sequence.

11 entries on 1 page. Showing entries 1 - 11.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.105C>T r.(?) p.(Phe35=) Unknown - likely benign g.205027083C>T g.205057955C>T CNTN2(NM_005076.4):c.105C>T (p.F35=) - CNTN2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.158C>T r.(?) p.(Thr53Met) Unknown - likely benign g.205027136C>T - CNTN2(NM_005076.4):c.158C>T (p.T53M) - CNTN2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.487+10G>A r.(=) p.(=) Unknown - likely benign g.205027801G>A g.205058673G>A CNTN2(NM_005076.4):c.487+10G>A - CNTN2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 6 c.504del r.(?) p.(Trp168Cysfs*163) Both (homozygous) - pathogenic (recessive) g.205028228del g.205059100del 503_503delG - CNTN2_000005 - PubMed: Stogmann 2013 - - Germline yes - - 0 - DNA SEQ - - FAME family PubMed: Stogmann 2013 5-generation family, 5 affected sibs (4F, M), unaffected heterozygous carrier parents/relatives F;M yes Egypt - - 0 - - 5 Johan den Dunnen
?/. - c.505C>T r.(?) p.(Leu169Phe) Unknown - VUS g.205028229C>T g.205059101C>T CNTN2(NM_005076.4):c.505C>T (p.L169F) - CNTN2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1372A>G r.(?) p.(Ile458Val) Unknown - VUS g.205033581A>G g.205064453A>G - - CNTN2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1460C>T r.(?) p.(Thr487Ile) Parent #1 - VUS g.205033819C>T g.205064691C>T - - CNTN2_000006 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs116647440 Germline - 1/2794 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
-/. - c.1969C>T r.(?) p.(Arg657Trp) Parent #1 - benign g.205035721C>T g.205066593C>T - - CNTN2_000007 5 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs2305276 Germline - 5/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 5 Mohammed Faruq
-?/. - c.1975A>G r.(?) p.(Asn659Asp) Unknown - likely benign g.205035727A>G g.205066599A>G CNTN2(NM_005076.3):c.1975A>G (p.(Asn659Asp)) - CNTN2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1975A>G r.(?) p.(Asn659Asp) Parent #1 - benign g.205035727A>G g.205066599A>G - - CNTN2_000004 11 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs41264871 Germline - 11/2792 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 11 Mohammed Faruq
?/. - c.2155G>A r.(?) p.(Gly719Arg) Unknown - VUS g.205038648G>A g.205069520G>A CNTN2(NM_005076.4):c.2155G>A (p.G719R) - CNTN2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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