Full data view for gene DNALI1

Information The variants shown are described using the NM_003462.3 transcript reference sequence.

6 entries on 1 page. Showing entries 1 - 6.
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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.-2857G>C likely benign r.(?) p.(=) Unknown g.38019673G>C - SNIP1(NM_024700.3):c.158C>G (p.(Pro53Arg)) - DNALI1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-2783C>T benign r.(?) p.(=) Unknown g.38019747C>T - SNIP1(NM_024700.3):c.84G>A (p.V28=) - SNIP1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*1847T>C likely benign r.(=) p.(=) Unknown g.38032509T>C - GNL2(NM_013285.2):c.2143A>G (p.(Asn715Asp)) - GNL2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*2646G>A likely benign r.(=) p.(=) Unknown g.38033308G>A - GNL2(NM_013285.2):c.2009C>T (p.(Ser670Leu)) - GNL2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.*9623C>T VUS r.(=) p.(=) Unknown g.38040285C>T - GNL2(NM_013285.2):c.1283G>A (p.(Arg428Gln)) - GNL2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.*25700A>T VUS r.(=) p.(=) Unknown g.38056362A>T - GNL2(NM_013285.2):c.329T>A (p.V110D) - GNL2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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