Genomic variant #0000393275

Individual ID 00172535
Chromosome X
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.92927634G>C
DNA change (hg38) g.93672635G>C
Published as -
ISCN -
DB-ID NAP1L3_000001 See all 3 reported entries
Variant remarks recurrent, found 127 times
Reference PubMed: Tarpey 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 127/208 cases
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.61138 View details
Owner Lucy Raymond
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NAP1L3 NM_004538.5 ?/. - c.670C>G r.(?) p.(Pro224Ala)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000173418 DNA SEQ - - NDUFA1 1 Lucy Raymond