Variant #0000002025 (NC_000001.11:g.65610269G>T, NM_002303.5:c.1968G>T (LEPR))

Individual ID 00000429
Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.65610269G>T
Published as K656N
Reference ClinVar
DB-ID LEPR_000003
dbSNP ID rs1805094
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah
Date created 2021-02-18 11:02:17 +08:00 (CST)
Date last edited 2021-08-01 12:57:22 +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 +/. 14 c.1968G>T - r.(?) p.(Lys656Asn) - Uncertain significance



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000460 DNA PCRdig LEPR 3 Nur Aisyah Athirah