TACSTD2 c.632del ;(p.Q211Rfs*60)

Variant ID: 1-59042197-CT-C

NM_002353.2(TACSTD2):c.632del;(p.Q211Rfs*60)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Identification and characterization of a novel TACSTD2 mutation in gelatinous drop-like corneal dystrophy.

Molecular Vision
Paliwal, Preeti P; Gupta, Jaya J; Tandon, Radhika R; Sharma, Namrata N; Titiyal, Jeewan S JS; Kashyap, Seema S; Sen, Seema S; Kaur, Punit P; Dube, Divya D; Sharma, Arundhati A; Vajpayee, Rasik B RB
Publication Date: 2010-04-28

Variant appearance in text: TACSTD2: Gln211ArgfsX60
PubMed Link: 20454699
Variant Present in the following documents:
  • Main text
View BVdb publication page



Two novel mutations identified in two Chinese gelatinous drop-like corneal dystrophy families.

Molecular Vision
Zhang, Bei B; Yao, Yu-Feng YF; Zhou, Ping P
Publication Date: 2007-06-24

Variant appearance in text: TACSTD2: 632delA
PubMed Link: 17653040
Variant Present in the following documents:
  • Main text
  • mv-v13-988.pdf
View BVdb publication page