EDNRB-AS1

EDNRB antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 13:77779723-77908445

Links

ENSG00000225579 ∙ NCBI:100505518 ∙ ∙ HGNC:49045 ∙ ∙ ∙ 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 EDNRB-AS1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the EDNRB-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						0
Total	0	0	0	0	0

Variants in EDNRB-AS1

This is a list of pathogenic ClinVar variants found in the EDNRB-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
13-77895535-A-G		Hirschsprung disease, susceptibility to, 2	Uncertain significance (Jan 12, 2018)
13-77895620-G-A		Hirschsprung disease, susceptibility to, 2	Uncertain significance (Jan 12, 2018)
13-77895737-A-G		Hirschsprung disease, susceptibility to, 2	Uncertain significance (Jan 12, 2018)
13-77895748-C-T		Hirschsprung disease, susceptibility to, 2	Uncertain significance (Jan 13, 2018)
13-77895774-T-G		Hirschsprung disease, susceptibility to, 2	Uncertain significance (Jan 13, 2018)
13-77895845-A-G		Hirschsprung disease, susceptibility to, 2	Uncertain significance (Jan 13, 2018)
13-77895891-A-G		Hirschsprung disease, susceptibility to, 2	Uncertain significance (Jan 12, 2018)
13-77895908-T-G		Hirschsprung disease, susceptibility to, 2	Uncertain significance (Jan 15, 2018)
13-77895942-C-A		Hirschsprung disease, susceptibility to, 2	Uncertain significance (Jan 13, 2018)
13-77895981-T-C		Hirschsprung disease, susceptibility to, 2	Uncertain significance (Jan 13, 2018)
13-77896033-G-C		Hirschsprung disease, susceptibility to, 2	Uncertain significance (Jan 13, 2018)
13-77896035-G-A		Hirschsprung disease, susceptibility to, 2	Uncertain significance (Jan 12, 2018)
13-77896136-A-C		Hirschsprung disease, susceptibility to, 2	Uncertain significance (Jan 12, 2018)
13-77896145-T-C		Hirschsprung disease, susceptibility to, 2	Uncertain significance (Jan 13, 2018)
13-77896153-G-A		Hirschsprung disease, susceptibility to, 2	Uncertain significance (Jan 12, 2018)
13-77896159-A-G		Hirschsprung disease, susceptibility to, 2	Uncertain significance (Jan 13, 2018)
13-77896294-C-T		Hirschsprung disease, susceptibility to, 2	Uncertain significance (Jan 13, 2018)
13-77896340-A-C		Hirschsprung disease, susceptibility to, 2	Uncertain significance (Jan 12, 2018)
13-77896356-T-C		Hirschsprung disease, susceptibility to, 2	Uncertain significance (Jan 13, 2018)
13-77896416-T-C		Hirschsprung disease, susceptibility to, 2	Uncertain significance (Jan 12, 2018)
13-77896433-G-A		not specified • Hirschsprung disease, susceptibility to, 2	Benign/Likely benign (Mar 04, 2019)
13-77896538-A-G		Hirschsprung disease, susceptibility to, 2	Uncertain significance (Jan 12, 2018)
13-77896568-G-T		not specified	Uncertain significance (May 21, 2015)
13-77896600-A-G		Hirschsprung disease, susceptibility to, 2	Uncertain significance (Jan 13, 2018)
13-77896654-T-C		Hirschsprung disease, susceptibility to, 2	Benign/Likely benign (Jul 05, 2018)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP