Variant #0000571274 (NC_000022.10:g.18609190T>C, TUBA8(NM_018943.2):c.445T>C)

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.18609190T>C
DNA change (hg38) g.18126423T>C
Published as TUBA8(NM_018943.2):c.445T>C (p.F149L)
ISCN -
DB-ID TUBA8_000011
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_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TUBA8 NM_018943.2 ?/. - c.445T>C r.(?) p.(Phe149Leu)