Genomic variant #0000324501

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.2522462_2522469del
DNA change (hg38) g.2472461_2472468del
Published as NTN3(NM_006181.2):c.760_767del (p.(Arg254ValfsTer28))
ISCN -
DB-ID NTN3_000008
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.-2825_-2818del r.(?) p.(=)
NTN3 NM_006181.2 ?/. - c.760_767del r.(?) p.(Arg254ValfsTer28)
TBC1D24 NM_020705.2 ?/. - c.-2825_-2818del r.(?) p.(=)
C16orf59 NM_025108.2 ?/. - c.*7793_*7800del r.(=) p.(=)