Variant #0000002623 (NC_000004.12:g.4862961C>A, NM_002448.3:c.730C>A (MSX1))

Individual ID 00000588
Chromosome 4
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.4862961C>A
Published as -
Reference Widya Lestari et al.(2017)(https://search.proquest.com/docview/1979948315/fulltextPDF/A1556A50A6E442CCPQ/1?accountid=44024)
DB-ID MSX1_000006 See all 2 reported entries
dbSNP ID rs74040399
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 2021-04-20 10:33:43 +08:00 (CST)
Date last edited 2021-09-08 12:38:30 +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     
MSX1 NM_002448.3 +/. 1 c.730C>A c.730G>A r.(?) p.(Pro244Thr) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000652 DNA PCR;PAGE;SEQ MSX1 2 Nur Aisyah Athirah