Variant #0000693253 (NC_000023.10:g.10423004G>A, MID1(NM_000381.3):c.1561C>T)

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.10423004G>A
DNA change (hg38) -
Published as MID1(NM_000381.4):c.1561C>T (p.R521C), MID1(NM_001347733.1):c.1561C>T (p.R521C)
ISCN -
DB-ID MID1_000069 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 -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00053 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MID1 NM_000381.3 -?/. - c.1561C>T r.(?) p.(Arg521Cys)