Variant #0000572801 (NC_000023.10:g.10469556T>C, MID1(NM_000381.3):c.757-5825A>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.10469556T>C
DNA change (hg38) g.10501516T>C
Published as MID1(NM_001193278.1):c.800A>G (p.(Tyr267Cys))
ISCN -
DB-ID MID1_000057
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) Variant not found in online data sets
Owner VKGL-NL_Leiden
Database submission license No license selected
Created by VKGL-NL_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MID1 NM_000381.3 ?/. - c.757-5825A>G r.(=) p.(=)