Variant #0000002022 (NC_000007.14:g.128241296G>A, NM_000230.2:c.-39G>A (LEP))

Individual ID 00000429
Chromosome 7
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.128241296G>A
Published as A19G
Reference ClinVar
DB-ID LEP_000001 See all 2 reported entries
dbSNP ID rs2167270
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 10:55:49 +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     

Clinical classification     
LEP NM_000230.2 +/. 1 c.-39G>A - r.(=) p.(=) Likely benign



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000459 DNA PCRdig LEP 1 Nur Aisyah Athirah