SECISBP2 c.2045_2048del ;(p.K682Tfs*2)

Variant ID: 9-91965696-TCAAA-T

NM_024077.3(SECISBP2):c.2045_2048del;(p.K682Tfs*2)

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:

Clinical and Molecular Analysis in 2 Families With Novel Compound Heterozygous SBP2 (SECISBP2) Mutations.

The Journal Of Clinical Endocrinology And Metabolism
Fu, Jiao J; Korwutthikulrangsri, Manassawee M; Gönç, E Nazli EN; Sillers, Laura L; Liao, Xiao-Hui XH; Alikaşifoğlu, Ayfer A; Kandemir, Nurgün N; Menucci, Maria Belen MB; Burman, Kenneth D KD; Weiss, Roy E RE; Dumitrescu, Alexandra M AM
Publication Date: 2020-03-01

Variant appearance in text: SBP2: 2045_2048delAACA
PubMed Link: 32084277
Variant Present in the following documents:
  • Main text
View BVdb publication page