Two novel intronic variants in ABCB4: Clinical features, molecular mechanisms, and literature review

doi:10.3748/wjg.v32.i26.119398

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World Journal of Gastroenterology

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1007-9327

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Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA

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Copyright: ©Author(s) 2026. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution-NonCommercial (CC BY-NC 4.0) license. No commercial re-use. See permissions. Published by Baishideng Publishing Group Inc.

World J Gastroenterol. Jul 14, 2026; 32(26): 119398
Published online Jul 14, 2026. doi: 10.3748/wjg.v32.i26.119398

Table 2 Prediction results of bioinformatics software for two intron variants

Variants	Gene name	Reference sequence information	SNP	gnomAD	HGMD	SpliceAI			NNSplice	FSplice	ACMG
Variants	Gene name	Reference sequence information	SNP	gnomAD	HGMD	Type	Score	Pre-mRNA position	NNSplice	FSplice	ACMG
c.537-32G>T	ABCB4	NG 007118.3	(-)	(-)	(-)	Acceptor loss	0.18	-32 bp	Donor loss	Donor loss	Uncertain significance (PS3 + PM2 + PM4 + PP3)
c.537-32G>T	ABCB4	NG 007118.3	(-)	(-)	(-)	Acceptor gain	0.09	-16 bp	Donor loss	Donor loss	Uncertain significance (PS3 + PM2 + PM4 + PP3)
c.833+2T>C	ABCB4	NG 007118.3	(-)	(-)	(-)	Donor loss	0.99	2 bp	Donor loss	Donor loss	Uncertain significance (PS3 + PM2 + PM4 + PP3)

SNP: Single nucleotide polymorphism; gnomAD: Genome aggregation database; HGMD: Human gene mutation database; Pre-mRNA: Precursor messenger RNA; ACMG: American college of medical genetics and genomics; PS: Pathogenic strong; PM: Pathogenic moderate; PP: Pathogenic supporting.

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Citation: Zheng YF, Weng YH, Li SX, Yang YF. Two novel intronic variants in ABCB4: Clinical features, molecular mechanisms, and literature review. World J Gastroenterol 2026; 32(26): 119398
URL: https://www.wjgnet.com/1007-9327/full/v32/i26/119398.htm
DOI: https://dx.doi.org/10.3748/wjg.v32.i26.119398

Zheng YF, Weng YH, Li SX, Yang YF. Two novel intronic variants in ABCB4: Clinical features, molecular mechanisms, and literature review. World J Gastroenterol 2026; 32(26): 119398 [DOI: 10.3748/wjg.v32.i26.119398]

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