Variant #0000693254 (NC_000023.10:g.10427691_10427694dup, MID1(NM_000381.3):c.1440_1443dup)

Chromosome X
Allele Unknown
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.10427691_10427694dup
DNA change (hg38) -
Published as MID1(NM_000381.3):c.1443_1444insGACA (p.(Asn482Aspfs*7))
ISCN -
DB-ID MID1_000072
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.1440_1443dup r.(?) p.(Asn482AspfsTer7)