Full data view for gene LEPR

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

7 entries on 1 page. Showing entries 1 - 7.
Legend  

Effect     

AscendingDNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     

Allele     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

MSCV     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Date     

Template     

Technique     

Tissue     

Description     

Disease     

Reference     

Gender     

Geographic origin     

Ethnic origin     

Population     

Consanguinity     

Age of death     

Cause of death     

Remarks     

Panel size     

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