USH2A c.7131C>T ;(p.N2377=)

Variant ID: 1-216108127-G-A

NM_206933.2(USH2A):c.7131C>T;(p.N2377=)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa.

Journal Of Medical Genetics
McGee, Terri L TL; Seyedahmadi, Babak Jian BJ; Sweeney, Meredith O MO; Dryja, Thaddeus P TP; Berson, Eliot L EL
Publication Date: 2010-07

Variant appearance in text: USH2: 7131C>T; Asn2377Asn
PubMed Link: 20507924
Variant Present in the following documents:
  • Main text
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