List of variants studied for Familial dysautonomia by Genome Diagnostics Laboratory,University Medical Center Utrecht

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 6

Download table as spreadsheet

HGVS	dbSNP
NM_003640.5(ELP1):c.2543C>A (p.Thr848Asn)	rs10979599
NM_003640.5(ELP1):c.2587+14C>T	rs141670242
NM_003640.5(ELP1):c.2855A>T (p.Lys952Ile)	rs2230798
NM_003640.5(ELP1):c.751A>G (p.Ser251Gly)	rs17853166
NM_003640.5(ELP1):c.934G>A (p.Glu312Lys)	rs1140064
NM_003640.5(ELP1):c.959-15C>T	rs112114410

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.