TG c.393_394insTCAGC ;(p.D132Sfs*37)

Variant ID: 8-133883711-T-TTCAGC

NM_003235.4(TG):c.393_394insTCAGC;(p.D132Sfs*37)

This variant was identified in 1 publication

View GRCh38 version.



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

Publications:

Identification of novel mutant PAX6 alleles in Indian cases of familial aniridia.

Bmc Ophthalmology
Neethirajan, Guruswamy G; Nallathambi, Jeyabalan J; Krishnadas, Subbaiah Ramasamy SR; Vijayalakshmi, Perumalsamy P; Shashikanth, Shetty S; Collinson, Jon Martin JM; Sundaresan, Periasamy P
Publication Date: 2006-06-27

Variant appearance in text: TG: 393insTCAGC
PubMed Link: 16803629
Variant Present in the following documents:
  • Main text
  • 1471-2415-6-28.pdf
View BVdb publication page