Full data view for gene GOLGA6D

Information The variants shown are described using the NM_001145224.1 transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
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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.487C>T VUS r.(?) p.(Gln163*) Unknown g.75580628C>T - GOLGA6D(NM_001145224.1):c.487C>T (p.(Gln163Ter)) - GOLGA6D_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1669C>T VUS r.(?) p.(Gln557*) Unknown g.75586145C>T - GOLGA6D(NM_001145224.1):c.1669C>T (p.(Gln557Ter)) - GOLGA6D_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1800+8G>A likely benign r.(=) p.(=) Unknown g.75586367G>A - GOLGA6D(NM_001145224.1):c.1800+8G>A (p.(=)) - GOLGA6D_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2003T>C likely benign r.(?) p.(Val668Ala) Unknown g.75586737T>C - GOLGA6D(NM_001145224.1):c.2003T>C (p.(Val668Ala)) - GOLGA6D_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2026A>G likely benign r.(?) p.(Asn676Asp) Unknown g.75586760A>G - GOLGA6D(NM_001145224.1):c.2026A>G (p.(Asn676Asp)) - GOLGA6D_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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