Full data view for gene A4GALT

Information The variants shown are described using the NM_017436.4 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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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     
+/. - c.451del r.(?) p.(Arg151GlyfsTer54) Unknown - pathogenic g.43089508del g.42693502del A4GALT(NM_017436.4):c.451delC (p.R151Gfs*54) - A4GALT_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.612G>C r.(=) p.(=) Unknown ACMG likely pathogenic (dominant) g.43089346C>G - G612C (L204L) - chr22_003028 - PubMed: Halvardson 2016 - - De novo - - - 0 - DNA SEQ, SEQ-NG - - NDD Fam17 PubMed: Halvardson 2016 - M - Sweden - - 0 - - 1 Johan den Dunnen
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