Genomic variant #0000023407

Individual ID 00004129
Chromosome 2
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.5833031T>C
DNA change (hg38) g.5692899T>C
Published as -
ISCN -
DB-ID SOX11_000002
Variant remarks -
Reference PubMed: Tsurusaki 2014, Journal: Tsurusaki 2014
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency 1/92 cases
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Yoshinori Tsurusaki
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
SOX11 NM_003108.3 +?/. 1 c.178T>C - r.(?) p.(Ser60Pro)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000004429 DNA SEQ-NG-I - - SOX11 1 Yoshinori Tsurusaki