OVCH1-AS1

OVCH1 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 12:29389281-29487908

Links

ENSG00000257599 ∙ NCBI:101055625 ∙ ∙ HGNC:44484 ∙ ∙ ∙ 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 OVCH1-AS1 gene.

• Inborn genetic diseases (39 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OVCH1-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			1
splice region						0
non coding			34	4		38
Total	0	0	35	4	0

Variants in OVCH1-AS1

This is a list of pathogenic ClinVar variants found in the OVCH1-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
12-29433785-C-G		not specified	Uncertain significance (Oct 14, 2023)
12-29443399-C-T		not specified	Likely benign (Jun 03, 2022)
12-29443418-C-G		not specified	Uncertain significance (Nov 03, 2022)
12-29443438-G-A		not specified	Uncertain significance (Feb 22, 2023)
12-29443462-A-G		not specified	Uncertain significance (Nov 17, 2022)
12-29443469-G-A		not specified	Uncertain significance (Oct 05, 2021)
12-29443474-A-G		not specified	Uncertain significance (Apr 08, 2024)
12-29444161-G-A		not specified	Uncertain significance (Nov 27, 2023)
12-29444226-A-G		not specified	Uncertain significance (Feb 15, 2023)
12-29444229-T-G		not specified	Uncertain significance (Sep 22, 2023)
12-29445308-C-T		not specified	Uncertain significance (Jun 05, 2024)
12-29445388-C-T		not specified	Uncertain significance (Dec 16, 2022)
12-29451488-A-G		not specified	Uncertain significance (Jan 07, 2022)
12-29451489-G-C		not specified	Uncertain significance (Jan 06, 2023)
12-29451515-C-T		not specified	Uncertain significance (Nov 29, 2023)
12-29454873-G-C		not specified	Uncertain significance (Dec 20, 2021)
12-29454897-G-T		not specified	Uncertain significance (Apr 17, 2024)
12-29455251-T-C		not specified	Uncertain significance (Mar 29, 2024)
12-29455258-T-C		not specified	Uncertain significance (May 14, 2024)
12-29455293-G-T		not specified	Uncertain significance (May 30, 2023)
12-29455312-A-G		not specified	Likely benign (Apr 23, 2024)
12-29461868-T-C		not specified	Uncertain significance (Sep 22, 2022)
12-29461922-G-A		not specified	Uncertain significance (Sep 01, 2021)
12-29461940-T-C		not specified	Uncertain significance (Sep 09, 2021)
12-29464521-C-T		not specified	Uncertain significance (Jan 10, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OVCH1-AS1	protein_coding	protein_coding	ENST00000551108	2	98195

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.465	0.512	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.610	80	96.9	0.826	0.00000770	876
Missense in Polyphen		11	9.6602	1.1387		74
Synonymous	0.758	36	42.3	0.852	0.00000355	319
Loss of Function	1.82	1	5.70	0.175	5.19e-7	36

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium