Genomic variant #0000557670

Chromosome 16
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.2522771G>A
DNA change (hg38) -
Published as NTN3(NM_006181.2):c.998G>A (p.(Arg333His))
ISCN -
DB-ID TBC1D24_000090
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
TBC1D24 NM_001199107.1 -?/. - c.-2516G>A likely benign r.(?) p.(=)
NTN3 NM_006181.2 -?/. - c.998G>A likely benign r.(?) p.(Arg333His)
TBC1D24 NM_020705.2 -?/. - c.-2516G>A likely benign r.(?) p.(=)
C16orf59 NM_025108.2 -?/. - c.*8102G>A likely benign r.(=) p.(=)