Variant #0000334728 (NC_000023.10:g.77086362A>C, MAGT1(NM_032121.5):c.1028T>G)

Chromosome X
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.77086362A>C
DNA change (hg38) g.77830865A>C
Published as MAGT1(NM_001367916.1):c.932T>G (p.V311G), MAGT1(NM_032121.5):c.1028T>G (p.(Val343Gly), p.V343G)
ISCN -
DB-ID MAGT1_000003 See all 3 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00158 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MAGT1 NM_032121.5 ?/. - c.1028T>G r.(?) p.(Val343Gly)