SMARCA4 c.4509G>C ;(p.K1503N)

Variant ID: 19-11169015-G-C

NM_003072.3(SMARCA4):c.4509G>C;(p.K1503N)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Human myelomeningocele risk and ultra-rare deleterious variants in genes associated with cilium, WNT-signaling, ECM, cytoskeleton and cell migration.

Scientific Reports
Au, K S KS; Hebert, L L; Hillman, P P; Baker, C C; Brown, M R MR; Kim, D-K DK; Soldano, K K; Garrett, M M; Ashley-Koch, A A; Lee, S S; Gleeson, J J; Hixson, J E JE; Morrison, A C AC; Northrup, H H
Publication Date: 2021-02-11

Variant appearance in text: SMARCA4: K1503N
PubMed Link: 33574475
Variant Present in the following documents:
  • 41598_2021_83058_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page