NUCB1 c.687G>C ;(p.K229N)

Variant ID: 19-49416751-G-C

NM_006184.5(NUCB1):c.687G>C;(p.K229N)

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:

Exome and copy number variation analyses of Mayer-Rokitansky-Küster- Hauser syndrome.

Human Genome Variation
Takahashi, Kazumi K; Hayano, Takahide T; Sugimoto, Ryota R; Kashiwagi, Hirofumi H; Shinoda, Mari M; Nishijima, Yoshihiro Y; Suzuki, Takahiro T; Suzuki, Shingo S; Ohnuki, Yuko Y; Kondo, Akane A; Shiina, Takashi T; Nakaoka, Hirofumi H; Inoue, Ituro I; Izumi, Shun-Ichiro SI
Publication Date: 2018

Variant appearance in text: NUCB1: K229N
PubMed Link: 30302266
Variant Present in the following documents:
  • 41439_2018_28_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page