All transcript variants in 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     

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     

Owner     
?/. - c.635T>C - r.(?) p.(Ile212Thr) g.66453476A>G g.66988489A>G - - SBDS_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.635T>C - r.(?) p.(Ile212Thr) g.66453476A>G g.66988489A>G - - SBDS_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.635T>C - r.(?) p.(Ile212Thr) g.66453476A>G g.66988489A>G - - SBDS_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.635T>C - r.(?) p.(Ile212Thr) g.66453476A>G g.66988489A>G - - SBDS_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.635T>C - r.(?) p.(Ile212Thr) g.66453476A>G g.66988489A>G - - SBDS_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.635T>C - r.(?) p.(Ile212Thr) g.66453476A>G g.66988489A>G - - SBDS_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.635T>C - r.(?) p.(Ile212Thr) g.66453476A>G g.66988489A>G - - SBDS_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.635T>C - r.(?) p.(Ile212Thr) g.66453476A>G g.66988489A>G - - SBDS_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
-/. - c.635T>C benign r.(?) p.(Ile212Thr) g.66453476A>G - SBDS(NM_016038.2):c.635T>C (p.I212T) - SBDS_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.635T>C benign r.(?) p.(Ile212Thr) g.66453476A>G - SBDS(NM_016038.2):c.635T>C (p.I212T) - SBDS_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.635T>C likely benign r.(?) p.(Ile212Thr) g.66453476A>G - SBDS(NM_016038.2):c.635T>C (p.I212T) - SBDS_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.635T>C likely benign r.(?) p.(Ile212Thr) g.66453476A>G - SBDS(NM_016038.2):c.635T>C (p.I212T) - SBDS_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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