SBF2-AS1

SBF2 antisense RNA 1, the group of Antisense RNAs

Basic information

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 clinvar	1 clinvar	1 clinvar	3
splice region ? Intron variants in splice region, excluding donor/acceptor (+/-2bp)						0
non coding ? UTR, intron and other, non coding variants	9 clinvar	7 clinvar	182 clinvar	141 clinvar	26 clinvar	365
Total	9	7	183	142	27

Highest pathogenic variant AF is 0.00000657

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP