Unique variants in the ZACN gene

Information The variants shown are described using the NM_180990.3 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-?/. 1 - c.313C>T r.(?) p.(Arg105Trp) - likely benign g.74076014C>T - ZACN(NM_180990.3):c.313C>T (p.R105W) - EXOC7_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*6168T>C r.(=) p.(=) - likely benign g.74084902T>C - EXOC7(NM_001145297.3):c.1303A>G (p.I435V) - EXOC7_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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