List of variants in gene CTDP1 studied for Congenital cataracts-facial dysmorphism-neuropathy syndrome

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: 6

Download table as spreadsheet

HGVS	dbSNP
NM_004715.4(CTDP1):c.1461G>A (p.Pro487=)	rs2126082
NM_004715.4(CTDP1):c.2817T>C (p.Asp939=)	rs626169
NM_004715.4(CTDP1):c.863+389C>T	rs113994102
NM_004715.4(CTDP1):c.978G>A (p.Thr326=)	rs599554
NM_004715.5(CTDP1):c.2418-207_2418-165dup	rs147933855
NM_004715.5(CTDP1):c.2649G>A (p.Glu883=)

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.