View unique 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     

Reported     

AscendingDNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     

Chr     

Allele     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

MSCV     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Owner     
+?/+?, ./. 2 c.2880C>G p.(=), p.(Asn960Lys) missense_variant - 20/20 benign(0.15) r.(=), r.(?) -, tolerated(0.3) 1 Unknown subst g.66102080C>G - 2.940 - LEPR_000001 MSCV_0000036 rs193922650 - ; clinvar, , clinVar; Ensembl; - - - -
./. 1 c.2880C>T p.(=) synonymous_variant - 20/20 - r.(=) - 1 Unknown subst g.66102080C>T - 2.940 - LEPR_000002 MSCV_0000037 rs193922650 - ; - - - -
-?/-?, ./. 2 c.3417A>G p.(=) synonymous_variant - 20/20 - r.(=) - 1 Unknown subst g.66102617A>G - -8.340 - LEPR_000003 MSCV_0000038 rs61781316 - ; clinVar; - - - -
-?/-?, ./. 2 c.3423C>T p.(=) synonymous_variant - 20/20 - r.(=) - 1 Unknown subst g.66102623C>T - 3.500 - LEPR_000004 MSCV_0000039 rs193922651 - ; clinVar; - - - -
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