Variant #0000577525 (NC_000023.10:g.77150868T>C, MAGT1(NM_032121.5):c.136A>G)

Chromosome X
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.77150868T>C
DNA change (hg38) g.77895371T>C
Published as MAGT1(NM_032121.5):c.136A>G (p.M46V)
ISCN -
DB-ID MAGT1_000017
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00029 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
COX7B NM_001866.2 -?/. - c.-4183T>C r.(?) p.(=)
MAGT1 NM_032121.5 -?/. - c.136A>G r.(?) p.(Met46Val)