Variant #0000571275 (NC_000022.10:g.18609699C>G, TUBA8(NM_018943.2):c.954C>G)

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.18609699C>G
DNA change (hg38) g.18126932C>G
Published as TUBA8(NM_018943.2):c.954C>G (p.L318=)
ISCN -
DB-ID TUBA8_000012
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) 0.00015 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.954C>G r.(?) p.(Leu318=)