SBDS gene homepage - CanVaS - A Greek Cancer Patient Genetic Variation Resource

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CanVaS - A Greek Cancer Patient Genetic Variation Resource

SBDS (SBDS ribosome maturation factor)

LOVD v.3.0 Build 23 [ Current LOVD status ]
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	Curator: Despoina Kalfakakou

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SBDS gene homepage

General information
Gene symbol	SBDS
Gene name	SBDS ribosome maturation factor
Chromosome	7
Chromosomal band	q11.21
Imprinted	Unknown
Genomic reference	LRG_104
Transcript reference	NM_016038.2
Associated with diseases	AplAn, SDS1
Citation reference(s)	-
Curators (1)	Despoina Kalfakakou
Total number of public variants reported	163
Unique public DNA variants reported	31
Individuals with public variants	132
Hidden variants	0
Date created	May 20, 2020
Date last updated	October 19, 2020
Version	SBDS:201019

Graphical displays and utilities
Graphs	Graphs displaying summary information of all variants in the database »
UCSC Genome Browser	Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser	Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer	Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC	19440
Entrez Gene	51119
PubMed articles	SBDS
OMIM - Gene	607444
OMIM - Diseases	AplAn (Aplastic anemia) SDS1 (Shwachman-Diamond syndrome)

Active transcripts

Legend

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ID	Chr	Name	NCBI ID	NCBI Protein ID	Variants
00000192	7	Shwachman-Bodian-Diamond syndrome	NM_016038.2	NP_057122.2	163

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