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GeneBe

SNHG22

small nucleolar RNA host gene 22, the group of Small nucleolar RNA non-coding host genes

Basic information

Links

ENSG00000267322NCBI:103091864HGNC:50285GenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SNHG22 gene.

  • not provided (203 variants)
  • Congenital microvillous atrophy (183 variants)
  • Inborn genetic diseases (17 variants)
  • Diarrhea with Microvillus Atrophy (12 variants)
  • MYO5B-related condition (3 variants)
  • not specified (2 variants)
  • Congenital microvillous atrophy;Cholestasis, progressive familial intrahepatic, 10 (1 variants)
  • Cholestasis, progressive familial intrahepatic, 10;Congenital microvillous atrophy (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SNHG22 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)
0
splice region
0
non coding
5
clinvar
1
clinvar
250
clinvar
79
clinvar
50
clinvar
385
Total 5 1 250 79 50

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP