All transcript variants in gene LEPR

Information The variants shown are described using the NM_002303.5 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
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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.2880C>G p.(=) missense_variant - 20/20 benign(0.15) r.(=) tolerated(0.3) subst g.66102080C>G - 2.940 - LEPR_000001 rs193922650 - ; clinVar; Ensembl; - - - LOVD
./. c.2880C>T p.(=) synonymous_variant - 20/20 - r.(=) - subst g.66102080C>T - 2.940 - LEPR_000002 rs193922650 - ; - - - LOVD
-?/-? c.3417A>G p.(=) synonymous_variant - 20/20 - r.(=) - subst g.66102617A>G - -8.340 - LEPR_000003 rs61781316 - ; clinVar; - - - LOVD
-?/-? c.3423C>T p.(=) synonymous_variant - 20/20 - r.(=) - subst g.66102623C>T - 3.500 - LEPR_000004 rs193922651 - ; clinVar; - - - LOVD
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