List of variants in gene TUBA1A studied for central nervous system malformation

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_006009.4(TUBA1A):c.1049G>T (p.Gly350Val)	rs1942166930
NM_006009.4(TUBA1A):c.1205G>A (p.Arg402His)	rs137853044
NM_006009.4(TUBA1A):c.1264C>A (p.Arg422Ser)	rs137853049
NM_006009.4(TUBA1A):c.518C>T (p.Pro173Leu)	rs1565627304
NM_006009.4(TUBA1A):c.521C>T (p.Ala174Val)	rs587784489
NM_006009.4(TUBA1A):c.5G>A (p.Arg2His)	rs587784491
NM_006009.4(TUBA1A):c.652G>A (p.Asp218Asn)	rs1057517858
NM_006009.4(TUBA1A):c.656T>C (p.Ile219Thr)	rs2121244045
NM_006009.4(TUBA1A):c.967G>A (p.Val323Met)	rs2121242709

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.