JMJD1C-AS1

JMJD1C antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 10:63465184-63502929

Links

ENSG00000272767 ∙ NCBI:84989 ∙ ∙ HGNC:28222 ∙ ∙ ∙ 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 JMJD1C-AS1 gene.

• Early myoclonic encephalopathy (53 variants)
• not provided (4 variants)
• Inborn genetic diseases (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the JMJD1C-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			29	22	4	55
Total	0	0	29	22	4

Variants in JMJD1C-AS1

This is a list of pathogenic ClinVar variants found in the JMJD1C-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
10-63465475-G-C		Early myoclonic encephalopathy	Likely benign (Jul 10, 2023)
10-63465476-G-A		Early myoclonic encephalopathy	Likely benign (Nov 24, 2022)
10-63465477-G-A		Early myoclonic encephalopathy	Likely benign (Feb 09, 2022)
10-63465484-G-C		Early myoclonic encephalopathy	Benign (Jan 29, 2024)
10-63465484-GA-CG		Early myoclonic encephalopathy	Benign (Feb 01, 2024)
10-63465484-GAC-CGT		Early myoclonic encephalopathy	Likely benign (Jan 29, 2024)
10-63465484-GA-G		Early myoclonic encephalopathy	Likely benign (Sep 02, 2020)
10-63465485-A-G		Early myoclonic encephalopathy	Benign (Feb 01, 2024)
10-63465486-C-T		Early myoclonic encephalopathy • JMJD1C-related disorder	Likely benign (Jul 19, 2023)
10-63465490-C-T		Early myoclonic encephalopathy	Uncertain significance (Jul 07, 2023)
10-63465494-C-A		Early myoclonic encephalopathy	Uncertain significance (Nov 17, 2020)
10-63465500-G-T		Early myoclonic encephalopathy	Uncertain significance (Oct 25, 2022)
10-63465501-G-C		Early myoclonic encephalopathy	Uncertain significance (Jan 04, 2024)
10-63465501-G-T		Early myoclonic encephalopathy	Uncertain significance (Jun 03, 2022)
10-63465502-T-G		Early myoclonic encephalopathy	Uncertain significance (Oct 13, 2023)
10-63465504-C-T		Early myoclonic encephalopathy	Likely benign (Dec 11, 2023)
10-63465506-G-A		Early myoclonic encephalopathy	Uncertain significance (Dec 19, 2023)
10-63465506-G-C		Early myoclonic encephalopathy	Uncertain significance (Jan 22, 2024)
10-63465511-C-A		Early myoclonic encephalopathy • not specified	Uncertain significance (Oct 27, 2023)
10-63465512-G-A		Early myoclonic encephalopathy	Uncertain significance (Oct 12, 2022)
10-63465516-G-A		Early myoclonic encephalopathy	Likely benign (Jul 28, 2021)
10-63465540-G-A		Early myoclonic encephalopathy	Likely benign (Nov 27, 2023)
10-63465543-C-A		Early myoclonic encephalopathy	Likely benign (Jul 05, 2022)
10-63465546-C-G		Early myoclonic encephalopathy	Likely benign (Dec 08, 2021)
10-63465548-C-CTCGCCAGCT		Early myoclonic encephalopathy	Uncertain significance (Nov 17, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP