Variant #0000348853 (NC_000023.10:g.77150933G>C, MAGT1(NM_032121.5):c.71C>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.77150933G>C
DNA change (hg38) g.77895436G>C
Published as -
ISCN -
DB-ID MAGT1_000012
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) 2.0E-5 View details
Owner VKGL-NL_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
COX7B NM_001866.2 ?/. - c.-4118G>C r.(?) p.(=)
MAGT1 NM_032121.5 ?/. - c.71C>G r.(?) p.(Ser24Ter)