Genomic variant #0000400983

Individual ID 00173499
Chromosome X
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.92964617G>A
DNA change (hg38) -
Published as E67K
ISCN -
DB-ID FAM133A_000005
Variant remarks recurrent, found 12 times
Reference PubMed: Tarpey 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 12/208 cases
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.03826 View details
Owner Lucy Raymond




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
FAM133A NM_173698.2 ?/. 4 c.199G>A - r.(?) p.(Glu67Lys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000174382 DNA SEQ - - PHF16 1 Lucy Raymond