Full data view for gene SEMA4A

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_001193301.1 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
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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     
?/. 15 c.2044C>T r.(?) p.(Pro682Ser) Parent #1 - VUS g.156146546C>T g.156176755C>T - - SEMA4A_000001 not segregating with disease in other family PubMed: Neveling 2012 - - Germline no - - 0 - DNA SEQ, SEQ-NG-S - - RP - - - M - - - - 0 - - 1 Kornelia Neveling
?/. 15 c.2044C>T r.(?) p.(Pro682Ser) Parent #1 - VUS g.156146546C>T g.156176755C>T - - SEMA4A_000001 not segregating with disease in other family PubMed: Neveling 2012 - - Germline - - - 0 - DNA SEQ, SEQ-NG-S - - RP - - - M - - - - 0 - - 1 Kornelia Neveling
?/. 15 c.2044C>T r.(?) p.(Pro682Ser) Parent #1 - VUS g.156146546C>T g.156176755C>T - - SEMA4A_000001 not segregating with disease in other family PubMed: Neveling 2012 - - Germline no - - 0 - DNA SEQ, SEQ-NG-S - - RP - - - M - - - - 0 - - 1 Kornelia Neveling
-/. - c.2044C>T r.(?) p.(Pro682Ser) Parent #1 - benign g.156146546C>T g.156176755C>T - - SEMA4A_000001 23 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs76381440 Germline - 23/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 23 Mohammed Faruq
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