ZNF630-AS1

ZNF630 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): X:48056310-48066583

Links

ENSG00000277541 ∙ NCBI:100874120 ∙ ∙ HGNC:41215 ∙ ∙ ∙ 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 ZNF630-AS1 gene.

• Inborn genetic diseases (16 variants)
• not provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF630-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			16	3		19
Total	0	0	16	3	0

Variants in ZNF630-AS1

This is a list of pathogenic ClinVar variants found in the ZNF630-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
X-48058467-A-G			Likely benign (Nov 01, 2022)
X-48058475-A-G		not specified	Uncertain significance (Apr 29, 2024)
X-48058745-G-A		not specified	Uncertain significance (Oct 27, 2022)
X-48058872-A-T		not specified	Uncertain significance (Mar 25, 2024)
X-48058910-C-T		not specified	Uncertain significance (Jan 04, 2024)
X-48058911-C-G		not specified	Uncertain significance (Apr 27, 2022)
X-48058971-C-G		not specified	Uncertain significance (Jan 17, 2024)
X-48058985-G-T		not specified	Uncertain significance (Nov 30, 2022)
X-48059016-C-T		not specified	Uncertain significance (Jun 02, 2024)
X-48059201-C-T		not specified	Uncertain significance (Aug 02, 2021)
X-48059202-G-A		not specified	Uncertain significance (Apr 06, 2022)
X-48059270-A-G		not specified	Uncertain significance (Nov 18, 2022)
X-48059333-G-A		not specified	Uncertain significance (Dec 27, 2023)
X-48059402-T-C		not specified	Uncertain significance (Jul 06, 2022)
X-48059483-T-A		not specified	Uncertain significance (Dec 09, 2023)
X-48059611-C-G		not specified	Uncertain significance (Aug 14, 2023)
X-48059731-A-G			Likely benign (Nov 01, 2022)
X-48059792-G-A			Likely benign (-)
X-48059945-G-T		not specified	Uncertain significance (Aug 02, 2021)
X-48060168-T-C		not specified	Uncertain significance (Oct 25, 2022)
X-48060482-A-G		not specified	Uncertain significance (May 05, 2022)
X-48060489-A-G		not specified	Uncertain significance (Nov 15, 2021)
X-48060492-G-T		not specified	Uncertain significance (Aug 10, 2021)
X-48060536-C-A		not specified	Uncertain significance (Oct 12, 2022)
X-48060822-C-T		not specified	Uncertain significance (Jan 29, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP