Variant #0000650917 (NC_000022.10:g.18606947G>A, TUBA8(NM_018943.2):c.251G>A)

Individual ID 00293060
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.18606947G>A
DNA change (hg38) g.18124180G>A
Published as -
ISCN -
DB-ID TUBA8_000014 See all 2 reported entries
Variant remarks 7 heterozygous, no homozygous; Clinindb (India)
Reference Faruq 2020, submtted
ClinVar ID -
dbSNP ID rs137904008
Origin Germline
Segregation -
Frequency 7/2795 individuals
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00038 View details
Owner Mohammed Faruq
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TUBA8 NM_018943.2 ?/. - c.251G>A r.(?) p.(Arg84His)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000294228 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq