F8 c.3124_3134del ;(p.E1042Ifs*10)

Variant ID: X-154158931-TGGACTATTCTC-T

NM_000132.3(F8):c.3124_3134del;(p.E1042Ifs*10)

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:

Genotype and phenotype analysis of Taiwanese patients with osteogenesis imperfecta.

Orphanet Journal Of Rare Diseases
Lin, Hsiang-Yu HY; Chuang, Chih-Kuang CK; Su, Yi-Ning YN; Chen, Ming-Ren MR; Chiu, Hui-Chin HC; Niu, Dau-Ming DM; Lin, Shuan-Pei SP
Publication Date: 2015-12-01

Variant appearance in text: F8: 3124_3134del
PubMed Link: 26627451
Variant Present in the following documents:
  • Main text
  • 13023_2015_Article_370.pdf
View BVdb publication page