Variant #0000170762 (NC_000003.11:g.133483075C>A, TF(NM_001063.3):c.1253C>A)

Individual ID 00104896
Chromosome 3
Allele Maternal (confirmed)
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.133483075C>A
DNA change (hg38) g.133764231C>A
Published as -
ISCN -
DB-ID TF_000003
Variant remarks not in 100 control chromosomes tested
Reference Pending
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 Mayka Sanchez
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TF NM_001063.3 +?/. 10 c.1253C>A r.(1253c>a) p.(Ala418Glu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000105368 DNA SEQ Peripheral blood - TF 2 Mayka Sanchez