EMC1-AS1

EMC1 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 1:19210330-19240709

Links

ENSG00000230424 ∙ NCBI:101927895 ∙ ∙ HGNC:54050 ∙ ∙ ∙ 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 EMC1-AS1 gene.

• not provided (681 variants)
• Inborn genetic diseases (45 variants)
• Cerebellar atrophy, visual impairment, and psychomotor retardation; (40 variants)
• not specified (8 variants)
• Cerebellar atrophy;Global developmental delay (2 variants)
• EMC1-Related Disorder (1 variants)
• Microcephaly (1 variants)
• See cases (1 variants)
• Congenital anomaly of kidney and urinary tract (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the EMC1-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	21	374	258	23	705
Total	29	21	374	258	23

Highest pathogenic variant AF is 0.0000263

Variants in EMC1-AS1

This is a list of pathogenic ClinVar variants found in the EMC1-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
1-19219307-C-T			Uncertain significance (Feb 09, 2023)
1-19219308-G-A			Uncertain significance (Jan 21, 2024)
1-19219312-G-C			Likely benign (Apr 17, 2021)
1-19219316-C-T			Uncertain significance (Apr 10, 2022)
1-19219316-C-CG			Uncertain significance (Aug 30, 2023)
1-19219317-G-A			Uncertain significance (Feb 07, 2023)
1-19219317-G-T			Likely benign (Oct 05, 2022)
1-19219318-A-G			Likely benign (Jan 31, 2023)
1-19219321-C-G		not specified	Likely benign (Jan 22, 2024)
1-19219327-C-T			Likely benign (Aug 27, 2023)
1-19219330-C-T			Likely benign (Sep 17, 2021)
1-19219329-T-TCA			Likely pathogenic (Jun 22, 2018)
1-19219336-T-C			Likely benign (Nov 02, 2022)
1-19219345-C-T			Likely benign (Jul 01, 2022)
1-19219349-G-A			Uncertain significance (May 23, 2023)
1-19219349-G-GTGA			Uncertain significance (Apr 18, 2023)
1-19219357-G-T			Likely benign (Sep 27, 2022)
1-19219372-G-A			Likely benign (Dec 10, 2023)
1-19219373-C-A			Uncertain significance (Dec 05, 2022)
1-19219376-A-G			Uncertain significance (Feb 05, 2022)
1-19219383-C-T			Uncertain significance (May 01, 2023)
1-19219384-G-A			Likely benign (May 18, 2023)
1-19219385-C-G			Uncertain significance (Jul 25, 2023)
1-19219396-C-T			Likely benign (Oct 19, 2023)
1-19219398-C-T			Uncertain significance (Jan 25, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP