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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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