Variant #0000000117 (NC_000004.12:g.4862808C>T, NM_002448.3:c.577C>T (MSX1))

Individual ID 00000023
Chromosome 4
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg38 / GRCh38) g.4862808C>T
Published as -
Reference Salahshourifar I; et al. (2011)dbSNP
DB-ID MSX1_000001
dbSNP ID rs104893850
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner MyHVP
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by MyHVP
Date created 2017-11-23 04:35:43 +08:00 (CST)
Date last edited 2021-09-08 12:32:47 +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.577C>T - r.(?) p.(Gln193*) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000031 DNA SEQ MSX1 1 MyHVP