Variant #0000798575 (NC_000006.11:g.1611072C>T, NM_001453.2:c.392C>T (FOXC1))

Individual ID 00382914
Chromosome 6
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.1611072C>T
DNA change (hg38) -
Published as -
ISCN -
DB-ID FOXC1_000065
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Youjia Zhang
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Youjia Zhang
Date created 2021-09-13 16:38:13 +02:00 (CEST)
Date last edited 2021-09-30 11:29:12 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FOXC1 NM_001453.2 +?/. - c.392C>T r.(?) p.(Ser131Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000384133 DNA SEQ-NG-I - - FOXC1 1 Youjia Zhang


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