Variant #0000334736 (NC_000023.10:g.77155096C>T, MAGT1(NM_032121.5):c.-4093G>A)

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.77155096C>T
DNA change (hg38) g.77899599C>T
Published as COX7B(NM_001866.2):c.40+6C>T (p.(=))
ISCN -
DB-ID COX7B_000002
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) 3.0E-5 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     
COX7B NM_001866.2 ?/. - c.40+6C>T r.(=) p.(=)
MAGT1 NM_032121.5 ?/. - c.-4093G>A r.(?) p.(=)