Full data view for gene CNTNAP1

Information The variants shown are described using the NM_003632.2 transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
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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     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.-3173T>C r.(?) p.(=) Unknown - likely benign g.40831675T>C g.42679657T>C CCR10(NM_016602.2):c.985A>G (p.(Ser329Gly)) - CCR10_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2250C>A r.(?) p.(Asp750Glu) Unknown - VUS g.40843435C>A g.42691417C>A CNTNAP1(NM_003632.2):c.2250C>A (p.(Asp750Glu)) - CNTNAP1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3191G>A r.(?) p.(Arg1064Gln) Unknown - VUS g.40847737G>A g.42695719G>A R1064Q - CNTNAP1_000006 - PubMed: Worthey 2013 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WGS SPCH Pat03/Pat7 PubMed: Eising 2018, PubMed: Worthey 2013 analysis 19 individuals with childhood apraxia of speech F - - - - 0 - - 1 Johan den Dunnen
+?/. - c.3361C>T r.(?) p.(Arg1121*) Both (homozygous) - likely pathogenic g.40848057C>T g.42696039C>T NM_003632.2:c.3361C>T; p.Arg1121* - CNTNAP1_000008 - PubMed: Nair 2018 - rs142756549 Unknown ? - - 0 - DNA SEQ-NG-I - whole exome sequencing LCCS-7 ? PubMed: Nair 2018 - ? - Lebanon - - 0 - - 1 LOVD
-?/. - c.3815-18del r.(=) p.(=) Unknown - likely benign g.40849903del - CNTNAP1(NM_003632.3):c.3815-18delG - CNTNAP1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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