Variant #0000001244 (NC_000004.12:g.4862962C>A, NM_002448.3:c.731C>A (MSX1))

Individual ID 00000245
Chromosome 4
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.4862962C>A
Published as c.731G>A
Reference -
DB-ID MSX1_000002
dbSNP ID rs28933382
Frequency 2
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nuur Athirah Binti Mohd Daud
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nuur Athirah Binti Mohd Daud
Date created 2020-12-13 13:11:05 +08:00 (CST)
Date last edited 2021-09-08 12:42:55 +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.731C>A c.731G>A r.(?) p.(Pro244His) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000260 DNA PCR;SEQ MSX1 1 Nuur Athirah Binti Mohd Daud