Genomic variant #0000324499

Chromosome 16
Allele Unknown
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.2522438_2522457del
DNA change (hg38) g.2472437_2472456del
Published as NTN3(NM_006181.2):c.736_755del (p.(Ala246ArgfsTer32))
ISCN -
DB-ID NTN3_000007
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TBC1D24 NM_001199107.1 ?/. - c.-2849_-2830del r.(?) -
NTN3 NM_006181.2 ?/. - c.736_755del r.(?) p.(Ala246ArgfsTer32)
TBC1D24 NM_020705.2 ?/. - c.-2849_-2830del r.(?) -
C16orf59 NM_025108.2 ?/. - c.*7769_*7788del r.(=) -