Variant #0000194519 (NC_000023.10:g.10535187C>T, MID1(NM_000381.3):c.401G>A)

Individual ID 00117951
Chromosome X
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.10535187C>T
DNA change (hg38) g.10567147C>T
Published as -
ISCN -
DB-ID MID1_000004 See all 2 reported entries
Variant remarks unclassified variant
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Birgit Neitzel
Database submission license No license selected
Created by Birgit Neitzel
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MID1 NM_000381.3 +?/. 1 c.401G>A r.(?) p.(Cys134Tyr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000118414 DNA SEQ - - MID1 1 Birgit Neitzel