Full data view for gene B3GALT6

Information The variants shown are described using the NM_080605.3 transcript reference sequence.

16 entries on 1 page. Showing entries 1 - 16.
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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.-3575_-3573del VUS r.(?) p.(=) Unknown g.1164084_1164086del - SDF4(NM_016176.3):c.90_92del (p.(Leu31del)) - B3GALT6_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 1 c.16C>T disease associated, recessive inheritance r.(?) p.(Arg6Trp) Unknown g.1167674C>T - - - B3GALT6_000010 - - - - Unknown yes - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.181G>C VUS r.(?) p.(Val61Leu) Unknown g.1167839G>C - - - B3GALT6_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 1 c.182T>C - r.(?) p.(Val61Ala) Paternal (confirmed) g.1167840T>C g.1232460T>C - - B3GALT6_000001 - - - - Germline yes - - 0 - DNA PCR Blood - SEMDJL-1 - - - M no ? (unknown) - - 0 - - 1 Cynthia Silveira
-?/. - c.324C>A likely benign r.(?) p.(=) Unknown g.1167982C>A - B3GALT6(NM_080605.4):c.324C>A (p.A108=) - B3GALT6_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.430G>A VUS r.(?) p.(Asp144Asn) Unknown g.1168088G>A - - - B3GALT6_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.515C>T likely benign r.(?) p.(Ala172Val) Unknown g.1168173C>T - B3GALT6(NM_080605.4):c.515C>T (p.A172V) - B3GALT6_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.515C>T likely benign r.(?) p.(Ala172Val) Unknown g.1168173C>T - B3GALT6(NM_080605.4):c.515C>T (p.A172V) - B3GALT6_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.519C>T likely benign r.(?) p.(=) Unknown g.1168177C>T - B3GALT6(NM_080605.4):c.519C>T (p.R173=) - B3GALT6_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.522G>C benign r.(?) p.(Glu174Asp) Unknown g.1168180G>C - B3GALT6(NM_080605.4):c.522G>C (p.E174D) - B3GALT6_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.540C>A likely benign r.(?) p.(=) Unknown g.1168198C>A - B3GALT6(NM_080605.4):c.540C>A (p.R180=) - B3GALT6_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.588dup pathogenic r.(?) p.(Arg197Alafs*246) Unknown g.1168246dup g.1232866dup 588dupG - B3GALT6_000002 - - - - Germline - - - 0 - DNA PCR Blood - SEMDJL-1 - - - M no ? (unknown) - - 0 - - 1 Cynthia Silveira
-?/. - c.630G>A likely benign r.(?) p.(=) Unknown g.1168288G>A - B3GALT6(NM_080605.4):c.630G>A (p.L210=) - B3GALT6_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.735G>C likely benign r.(?) p.(=) Unknown g.1168393G>C - B3GALT6(NM_080605.4):c.735G>C (p.L245=) - B3GALT6_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.833C>T VUS r.(?) p.(Thr278Met) Unknown g.1168491C>T - B3GALT6(NM_080605.4):c.833C>T (p.T278M) - B3GALT6_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.895C>A VUS r.(?) p.(Leu299Met) Unknown g.1168553C>A - B3GALT6(NM_080605.4):c.895C>A (p.L299M) - B3GALT6_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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