ZNF561-AS1

ZNF561 antisense RNA 1 (head to head), the group of Antisense RNAs

Basic information

Region (hg38): 19:9620993-9674662

Previous symbols: [ "C19orf82" ]

Links

ENSG00000267106NCBI:284385HGNC:27613Uniprot:K7EIQ3AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ZNF561-AS1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF561-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)
0
splice region
0
non coding
27
clinvar
5
clinvar
32
Total 0 0 27 5 0

Variants in ZNF561-AS1

This is a list of pathogenic ClinVar variants found in the ZNF561-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
19-9653061-T-C not specified Uncertain significance (Oct 22, 2021)2228257
19-9653073-G-A not specified Uncertain significance (Feb 08, 2025)3196740
19-9653094-T-C not specified Uncertain significance (Jun 07, 2024)3258687
19-9653130-G-C not specified Likely benign (May 04, 2023)2543703
19-9653169-G-C not specified Uncertain significance (Nov 06, 2023)3196739
19-9653188-C-T not specified Uncertain significance (Dec 16, 2022)2336062
19-9653233-G-C not specified Uncertain significance (Sep 02, 2024)3476949
19-9653274-G-A not specified Uncertain significance (Jul 09, 2021)2348808
19-9653310-A-C not specified Uncertain significance (Aug 04, 2023)2593909
19-9653325-G-C not specified Uncertain significance (Mar 19, 2024)3258685
19-9653341-A-G not specified Uncertain significance (Nov 18, 2023)3196744
19-9653365-C-G not specified Uncertain significance (Feb 06, 2023)2481258
19-9653385-T-C not specified Uncertain significance (Jun 24, 2022)2207359
19-9653400-G-A not specified Uncertain significance (Jan 17, 2023)2476161
19-9653438-G-T not specified Likely benign (Sep 24, 2024)3476950
19-9653460-T-C not specified Likely benign (Apr 12, 2024)3258686
19-9653483-C-A not specified Uncertain significance (Jan 27, 2025)3821786
19-9653576-G-T not specified Uncertain significance (Sep 17, 2021)2251097
19-9653604-C-G not specified Uncertain significance (Jan 18, 2022)2271830
19-9653673-G-T not specified Uncertain significance (Sep 29, 2023)3196743
19-9653689-A-G not specified Uncertain significance (Jul 02, 2024)3476946
19-9653704-A-G not specified Uncertain significance (Nov 05, 2021)2380455
19-9653739-C-T not specified Uncertain significance (Jan 27, 2025)3821785
19-9653743-T-G not specified Likely benign (Jun 13, 2023)2511153
19-9653745-C-A not specified Likely benign (Jun 13, 2023)2511152

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
ZNF561-AS1protein_codingprotein_codingENST00000587536 324606
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.001670.47900000.00
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.05894644.91.020.00000223672
Missense in Polyphen
Synonymous-0.1471918.21.040.00000108203
Loss of Function0.025144.050.9871.73e-756

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.000.00
Middle Eastern0.000.00
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

pHI
hipred
hipred_score
ghis
0.420