All variants in the DNASE1L1 gene

Information The variants shown are described using the NM_001009932.1 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

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     
-?/. - c.-8635G>A r.(?) p.(=) - likely benign g.153648432C>T g.154420093C>T TAZ(NM_000116.3):c.645C>T (p.V215=), TAZ(NM_000116.5):c.645C>T (p.V215=), TAZ(NM_001303465.2):c.658C>T (p.R220*) - TAZ_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.-8635G>A r.(?) p.(=) - likely benign g.153648432C>T g.154420093C>T TAZ(NM_000116.3):c.645C>T (p.V215=), TAZ(NM_000116.5):c.645C>T (p.V215=), TAZ(NM_001303465.2):c.658C>T (p.R220*) - TAZ_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.-8635G>A r.(?) p.(=) - VUS g.153648432C>T g.154420093C>T TAZ(NM_000116.3):c.645C>T (p.V215=), TAZ(NM_000116.5):c.645C>T (p.V215=), TAZ(NM_001303465.2):c.658C>T (p.R220*) - TAZ_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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