Variant #0000001451 (NC_000001.11:g.65592830A>G, NM_002303.5:c.668A>G (LEPR))

Individual ID 00000303
Chromosome 1
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.65592830A>G
Published as Q223R
Reference Zoe Yi Ng et al. (2014), dbSNP, (OMIM 0001), ClinVar
DB-ID LEPR_000002 See all 16 reported entries
dbSNP ID rs1137101
Frequency 98/241
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
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
Date created 2020-12-28 15:25:40 +08:00 (CST)
Date last edited 2021-08-29 10:34:33 +08:00 (CST)
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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) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000318 DNA PCR LEPR 1 Nuur Athirah Binti Mohd Daud