SECISBP2 c.2044_2050del ;(p.K682*)

Variant ID: 9-91965696-TCAAACAC-T

NM_024077.3(SECISBP2):c.2044_2050del;(p.K682*)

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:

A Novel Homozygous Selenocysteine Insertion Sequence Binding Protein 2 (SECISBP2, SBP2) Gene Mutation in a Turkish Boy.

Thyroid : Official Journal Of The American Thyroid Association
Çatli, Gönül G; Fujisawa, Haruki H; Kirbiyik, Özgür Ö; Mimoto, Mizuho S MS; Gençpinar, Pinar P; Özdemir, Taha Reşid TR; Dündar, Bumin Nuri BN; Dumitrescu, Alexandra M AM
Publication Date: 2018-09

Variant appearance in text: SECISBP2: K682fs*1
PubMed Link: 29882503
Variant Present in the following documents:
  • Main text
View BVdb publication page