Variant #0000650918 (NC_000022.10:g.18609647A>G, TUBA8(NM_018943.2):c.902A>G)

Individual ID 00293061
Chromosome 22
Allele Parent #1
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.18609647A>G
DNA change (hg38) g.18126880A>G
Published as -
ISCN -
DB-ID TUBA8_000015
Variant remarks 10 heterozygous, no homozygous; Clinindb (India)
Reference Faruq 2020, submtted
ClinVar ID -
dbSNP ID rs2234333
Origin Germline
Segregation -
Frequency 10/2795 individuals
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Mohammed Faruq
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TUBA8 NM_018943.2 ?/. - c.902A>G r.(?) p.(Gln301Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000294229 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq