SBF2-AS1

SBF2 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 11:9758267-9811335

Links

ENSG00000246273 ∙ NCBI:283104 ∙ ∙ HGNC:27438 ∙ ∙ ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SBF2-AS1 gene.

• Charcot-Marie-Tooth disease type 4 (249 variants)
• Charcot-Marie-Tooth disease type 4B2 (74 variants)
• not provided (70 variants)
• Inborn genetic diseases (50 variants)
• Charcot-Marie-Tooth disease (33 variants)
• not specified (24 variants)
• SBF2-related condition (2 variants)
• Tip-toe gait (2 variants)
• Peripheral neuropathy (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SBF2-AS1 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)			1	1	1	3
splice region						0
non coding	9	7	182	141	26	365
Total	9	7	183	142	27

Highest pathogenic variant AF is 0.00000657

Variants in SBF2-AS1

This is a list of pathogenic ClinVar variants found in the SBF2-AS1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
11-9778732-C-T		Charcot-Marie-Tooth disease type 4B2	Uncertain significance (Jan 13, 2018)
11-9778799-T-G		Charcot-Marie-Tooth disease type 4B2	Benign (Jan 13, 2018)
11-9778903-C-T		Charcot-Marie-Tooth disease type 4B2	Benign (Jan 13, 2018)
11-9778923-A-G		Charcot-Marie-Tooth disease type 4B2	Uncertain significance (Jan 12, 2018)
11-9778977-G-A		Charcot-Marie-Tooth disease type 4B2	Uncertain significance (Jan 12, 2018)
11-9778979-G-T		Charcot-Marie-Tooth disease type 4B2	Uncertain significance (Jan 12, 2018)
11-9779005-T-C		Charcot-Marie-Tooth disease type 4B2	Benign (Jan 12, 2018)
11-9779013-A-G		Charcot-Marie-Tooth disease type 4B2	Uncertain significance (Jan 12, 2018)
11-9779019-A-G		Charcot-Marie-Tooth disease type 4B2	Benign (Jan 12, 2018)
11-9779054-G-A		Charcot-Marie-Tooth disease type 4B2	Benign (Jan 13, 2018)
11-9779103-T-G		Charcot-Marie-Tooth disease type 4B2	Uncertain significance (Apr 27, 2017)
11-9779163-C-T		Charcot-Marie-Tooth disease type 4B2	Uncertain significance (Jan 13, 2018)
11-9779274-T-C		Charcot-Marie-Tooth disease type 4B2	Benign (Jan 13, 2018)
11-9779327-C-T		Charcot-Marie-Tooth disease type 4B2	Likely benign (Jan 12, 2018)
11-9779455-G-A		Charcot-Marie-Tooth disease type 4B2	Uncertain significance (Jan 12, 2018)
11-9779536-A-G		Charcot-Marie-Tooth disease type 4B2	Uncertain significance (Jan 12, 2018)
11-9779543-C-T		Charcot-Marie-Tooth disease type 4B2	Uncertain significance (Jan 13, 2018)
11-9779687-A-T		Charcot-Marie-Tooth disease type 4B2	Uncertain significance (Jan 13, 2018)
11-9779688-C-T		Charcot-Marie-Tooth disease type 4B2	Uncertain significance (Jan 13, 2018)
11-9779787-A-G		Charcot-Marie-Tooth disease type 4B2	Uncertain significance (Jan 12, 2018)
11-9779810-C-G		Charcot-Marie-Tooth disease type 4B2	Uncertain significance (Jan 12, 2018)
11-9779904-G-A		Charcot-Marie-Tooth disease type 4B2	Benign (Jan 13, 2018)
11-9779938-C-T		Charcot-Marie-Tooth disease type 4B2	Uncertain significance (Jan 13, 2018)
11-9779971-T-A		Charcot-Marie-Tooth disease type 4B2	Uncertain significance (Jan 13, 2018)
11-9780000-A-G		Charcot-Marie-Tooth disease type 4B2	Uncertain significance (Jan 13, 2018)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP