Variant #0000002615 (NC_000004.12:g.4862830C>T, NM_002448.3:c.599C>T (MSX1))

Individual ID 00000585
Chromosome 4
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.4862830C>T
Published as -
Reference Widya Lestari et al.(2017)(https://search.proquest.com/docview/1979948315/fulltextPDF/A1556A50A6E442CCPQ/1?accountid=44024)
DB-ID MSX1_000004 See all 2 reported entries
dbSNP ID rs1346748006
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 09:53:04 +08:00 (CST)
Date last edited 2021-08-01 14:10:47 +08:00 (CST)
Options




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.599C>T - r.(?) p.(Ala200Val) - Uncertain significance



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000647 DNA PCR;PAGE;SEQ MSX1 2 Nur Aisyah Athirah