current
LEPR:c.3417A>G (p.Ala1139Ala=) AND Obesity
current
classified by single submitter
probably not pathogenic
autosomal unknown
germline
human
unknown
assert pathogenicity
clinical testing
germline
human
yes
assert pathogenicity
curation
LEPR:c.3417A>G (p.Ala1139Ala=)
0.003767491927
0.0009
cds-synon
LRG_283t3:c.3417A>G
NM_002303.5:c.3417A>G
LRG_283:g.221370A>G
NG_015831.2:g.221370A>G
NC_000001.10:g.66102617A>G
NP_002294.2:p.Ala1139=
LRG_283p3:p.Ala1139Ala=
NP_002294.2:p.Ala1139Ala=
1p31.3
leptin receptor
LEPR
Obesity
OBESITY, SUSCEPTIBILITY TO
Early Onset Obesity
EO Obesity
Neonatal/infancy
1-5 / 10 000
current
classified by single submitter
likely benign
autosomal unknown
germline
Blood
human
yes
assert pathogenicity
curation
1
germline
Blood
human
unknown
assert pathogenicity
clinical testing
1
SingleHeterozygote
LEPR:c.668A>G
SingleHeterozygote
LEPR:c.3558_3559insCTTTA
SingleHeterozygote
LEPR:c.3057G>A
SingleHeterozygote
LEPR:c.1029T>C
SingleHeterozygote
LEPR:c.370+16G>T
HomozygousVariant
LEPR:c.1968G>C
HomozygousVariant
LEPR:c.2880C>G
SingleHeterozygote
1
NM_002303.5:c.3417A>G
p.Ala1139Ala
synonymous mutation
LEPR
Early Onset Obesity
EO Obesity