Variant #0000658870 (NC_000022.10:g.18609703C>T, TUBA8(NM_018943.2):c.958C>T)

Chromosome 22
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.18609703C>T
DNA change (hg38) g.18126936C>T
Published as TUBA8(NM_018943.2):c.958C>T (p.R320W)
ISCN -
DB-ID TUBA8_000016 See all 2 reported entries
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) 0.00038 View details
Owner VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TUBA8 NM_018943.2 ?/. - c.958C>T r.(?) p.(Arg320Trp)