Variant #0000319035 (NC_000022.10:g.18613633G>A, TUBA8(NM_018943.2):c.1080G>A)

Chromosome 22
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.18613633G>A
DNA change (hg38) g.18130866G>A
Published as TUBA8(NM_018943.2):c.1080G>A (p.P360=)
ISCN -
DB-ID TUBA8_000009
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) 0.00131 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.1080G>A r.(?) p.(Pro360=)