Variant #0000001457 (NC_000001.11:g.65592830A>G, LEPR(NM_002303.5):c.668A>G)

Individual ID 00000308
Chromosome 1
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.65592830A>G
Published as -
Reference Ali Etemad et al. (2013), dbSNP, (OMIM [2])
DB-ID LEPR_000002 See all 16 reported entries
dbSNP ID rs1137101
Frequency 46/90
Variant remarks -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Nuur Athirah Binti Mohd Daud
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nuur Athirah Binti Mohd Daud
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
LEPR NM_002303.5 +/. - c.668A>G - r.(?) p.(Gln223Arg) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000323 DNA PCRdig LEPR 2 Nuur Athirah Binti Mohd Daud