TG c.1672_1684del ;(p.L558Kfs*34)

Variant ID: 8-133899287-ACCTACAAGAGAAC-A

NM_003235.4(TG):c.1672_1684del;(p.L558Kfs*34)

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:

Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasia.

Bmc Medical Genomics
Kitayama, Kana K; Ishiguro, Tomoya T; Komiyama, Masaki M; Morisaki, Takayuki T; Morisaki, Hiroko H; Minase, Gaku G; Hamanaka, Kohei K; Miyatake, Satoko S; Matsumoto, Naomichi N; Kato, Masaru M; Takahashi, Toru T; Yorifuji, Tohru T
Publication Date: 2021-12-06

Variant appearance in text: TG: 1672_1684del
PubMed Link: 34872578
Variant Present in the following documents:
  • 12920_2021_Article_1139.pdf
View BVdb publication page