All transcript variants in gene DNASE1L1

Information The variants shown are described using the NM_001009934.1 transcript reference sequence.

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

AscendingDNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Owner     
+?/+? c.-282C>G p.(=) - - - - r.(=) - subst g.153640422G>C - 3.180 - TAZ_000026 - - ; BSF_TAZ; - - - LOVD
./. c.-282C>G p.(=) - - - - r.(=) - - g.153640422G>C - - - TAZ_000026 - - ; BSF_TAZ; - - - LOVD
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