Variant #0000194522 (NC_000023.10:g.10437792G>A, MID1(NM_000381.3):c.1230C>T)

Individual ID 00117954
Chromosome X
Allele Parent #1
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.10437792G>A
DNA change (hg38) g.10469752G>A
Published as S410S
ISCN -
DB-ID MID1_000001 See all 2 reported entries
Variant remarks recurrent, found 3 times
Reference PubMed: Tarpey 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 3/208 cases
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.02517 View details
Owner Lucy Raymond
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MID1 NM_000381.3 -?/. 7 c.1230C>T r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000118417 DNA SEQ - - MID1 1 Lucy Raymond