1:66081746-66081746 A > C

Classification

Category 1
CMH MAF 2 / 13144 samples (0.0152%)
2 het., 0 hom. (100%)
2 / 26288 total alleles (0.00761%)

gene: LEPR synonym(s): CD295, LEP-R, LEPRD, OB-R, OBR, LEPR, ENSG00000116678

OMIM
OMIM:601007: LEPR
OMIM:614963: Obesity, morbid, due to leptin receptor deficiency

NM_002303.5 [CDS]
hgvs_c: NM_002303.5:c.2051A>C
reference AA: H
variant AA: P
reference codon: cAt
variant codon: cCt
cDNA pos: 2236
CDS pos: 2051
translation impact: non_synonymous
protein sequence: NP_002294.2
AA pos: 684
hgvs_p: NP_002294.2:p.His684Pro
blosum: -2
SIFT: tolerated (0.12)
PolyPhen2: benign (0.212)

gene: TRNAN-GUU synonym(s): TRNAN-GUU

TRNAN-GUU [intron]

rs536454930
TOPMED_MAF = 0.00002389143730886

ExAC Non-Finnish, (1 / 66706), 0.0015%
COSMIC Mutation ID = COSV60756470
COSMIC_FATHMM_PREDICTION = NEUTRAL
COSMIC_MUTATION_SOMATIC_STATUS = false

gnomAD North-Western European, (4 / 50792), 0.00788%