LOVD - Variant listings for SEMA4A

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2 c.39C>A CTC>CTA (L13L) r.(?) p.(=) SEMA4A_00004 - germline (inherited) Abid 2006 DNA SSCP,SEQ, PCR, PAGE - -
5i c.463-17C>A - r.(spl?) p.(?) SEMA4A_00003 predicted unknown, disease-related variants in other gene germline (inherited) Neveling 2012 DNA SEQ, SEQ-NG-S - -
8 c.762T>C TTT>TTC r.(?) p.(=) SEMA4A_00005 - germline (inherited) Abid 2006 DNA SSCP,SEQ, PCR, PAGE - -
10 c.1033G>C
  (Reported 4 times)
c.345GAC>CAC r.(?) p.(Asp345His) SEMA4A_00006 Compound hetrozygous missense mutation germline (inherited) Abid 2006 DNA SSCP,SEQ, PCR, PAGE - -
10 c.1049T>G
  (Reported 4 times)
c.350TTT>TGT r.(?) p.(Phe350Cys) SEMA4A_00007 Compound hetrozygous missense mutation germline (inherited) Abid 2006 DNA SSCP,SEQ, PCR, PAGE - -
10i c.1134+27_1134+28del CA del 26bp downstream of exon r.(=) p.(=) SEMA4A_00008 13/190 patients, 11 controls (all heterozygous) germline (inherited) Abid 2006 DNA SSCP,SEQ, PCR, PAGE 0.11 -
15 c.=
  (Reported 4 times)
- r.= p.= SEMA4A_00000 normal 2nd chromosome germline (inherited) - DNA SEQ - -
15 c.1716C>T CCC>CCT r.(?) p.(=) SEMA4A_00009 - germline (inherited) Abid 2006 DNA SSCP,SEQ, PCR, PAGE - -
15 c.2044C>T
  (Reported 3 times)
- r.(?) p.(Pro682Ser) SEMA4A_00001 does not segregate with disease, not segregating with disease in other family germline (inherited) Neveling 2012 DNA SEQ, SEQ-NG-S - -
15 c.2138G>A
  (Reported 16 times)
- r.(?) p.(Arg713Gln) SEMA4A_00002 segregates in family, not segregating with disease in other families germline (inherited) Neveling 2012 DNA SEQ, SEQ-NG-S - -
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Legend: [ SEMA4A full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Coding DNA Reference Sequence, with the first base of the Met-codon counted as position 1.
Exon: number of exon/intron containing variant; 02 = exon 2, 12i = intron 12, 01_08 = exons 1 to 8 DNA change: DNA change Var_pub_as: Var_pub_as RNA change: RNA change Protein: Protein SEMA4A DB-ID: DB-ID Variant remarks: Variant remarks Origin: origin of variant; unknown, germline (inherited), somatic, de novo, from parental disomy (maternal or paternal) or in vitro (cloned) when tested for functional consequences Reference: Reference Detection/Template: Detection/Template Detection/Technique: technique(s) used to identify the sequence variant; select multiple when more were used. For SEQ-NG indicate in the Remarks-column the number of reads showing the variant (e.g. 47/96 reads, 123/123 reads), select a second technique to indicate whether or not the variant was confirmed using another method (e.g. SEQ). Frequency: Frequency RE-site: RE-site