Genomic variant #0000393274

Individual ID 00172534
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.92928109_92928114del
DNA change (hg38) -
Published as 190_195delAGCAGC
ISCN -
DB-ID NAP1L3_000002 See all 2 reported entries
Variant remarks found once, nonrecurrent change
Reference PubMed: Tarpey 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/208 cases
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.01036 View details
Owner Lucy Raymond
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
NAP1L3 NM_004538.5 ?/. - c.190_195del - r.(?) p.(Ser64_Ser65del)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000173417 DNA SEQ - - NDUFA1 1 Lucy Raymond