GeneBe

SNHG30

small nucleolar RNA host gene 30, the group of Small nucleolar RNA non-coding host genes

Basic information

Region (hg38): 17:35568050-35574900

Previous symbols: [ "LINC02001" ]

Links

ENSG00000267321 ∙ NCBI:105371743 ∙ ∙ HGNC:52836 ∙ ∙ ∙ 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 SNHG30 gene.

  • Peroxisome biogenesis disorder 3A (Zellweger) (2 variants)
  • Peroxisome biogenesis disorder 1A (Zellweger) (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SNHG30 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
splice region
0
non coding
2
clinvar
 2
Total 0 0 2 0 1

Variants in SNHG30

This is a list of pathogenic ClinVar variants found in the SNHG30 region.

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

Position Type Phenotype Significance ClinVar
17-35574859-C-T Peroxisome biogenesis disorder 3A (Zellweger) Uncertain significance (Jan 13, 2018)890753
17-35574860-A-G Peroxisome biogenesis disorder 3A (Zellweger) Uncertain significance (Jan 12, 2018)322634
17-35574898-TTAAG-T Peroxisome biogenesis disorder 1A (Zellweger) Benign (Jun 14, 2016)322635

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP