Full data view for gene SBDS

Information The variants shown are described using the NM_016038.2 transcript reference sequence.

12 entries on 1 page. Showing entries 1 - 12.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.635T>C - r.(?) p.(Ile212Thr) Unknown g.66453476A>G g.66988489A>G - - SBDS_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.635T>C - r.(?) p.(Ile212Thr) Unknown g.66453476A>G g.66988489A>G - - SBDS_000001 - - - - Germline - - - - - DNA SEQ-NG - - BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.635T>C - r.(?) p.(Ile212Thr) Unknown g.66453476A>G g.66988489A>G - - SBDS_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.635T>C - r.(?) p.(Ile212Thr) Unknown g.66453476A>G g.66988489A>G - - SBDS_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.635T>C - r.(?) p.(Ile212Thr) Unknown g.66453476A>G g.66988489A>G - - SBDS_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.635T>C - r.(?) p.(Ile212Thr) Unknown g.66453476A>G g.66988489A>G - - SBDS_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.635T>C - r.(?) p.(Ile212Thr) Unknown g.66453476A>G g.66988489A>G - - SBDS_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.635T>C - r.(?) p.(Ile212Thr) Unknown g.66453476A>G g.66988489A>G - - SBDS_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
-/. - c.635T>C benign r.(?) p.(Ile212Thr) Unknown g.66453476A>G - SBDS(NM_016038.2):c.635T>C (p.I212T) - SBDS_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.635T>C benign r.(?) p.(Ile212Thr) Unknown g.66453476A>G - SBDS(NM_016038.2):c.635T>C (p.I212T) - SBDS_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.635T>C likely benign r.(?) p.(Ile212Thr) Unknown g.66453476A>G - SBDS(NM_016038.2):c.635T>C (p.I212T) - SBDS_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.635T>C likely benign r.(?) p.(Ile212Thr) Unknown g.66453476A>G - SBDS(NM_016038.2):c.635T>C (p.I212T) - SBDS_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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