ATP8B1-AS1

ATP8B1 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 18:57629870-57738678

Links

ENSG00000267040 ∙ NCBI:100505549 ∙ ∙ HGNC:56042 ∙ ∙ ∙ 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 ATP8B1-AS1 gene.

• not provided (148 variants)
• Progressive familial intrahepatic cholestasis type 1 (97 variants)
• not specified (27 variants)
• Benign recurrent intrahepatic cholestasis type 1 (22 variants)
• Inborn genetic diseases (14 variants)
• Progressive familial intrahepatic cholestasis (10 variants)
• Cholestasis, intrahepatic, of pregnancy, 1 (4 variants)
• ATP8B1-related condition (4 variants)
• Benign recurrent intrahepatic cholestasis type 1;Progressive familial intrahepatic cholestasis type 1;Cholestasis, intrahepatic, of pregnancy, 1 (2 variants)
• Progressive familial intrahepatic cholestasis type 1;Cholestasis, intrahepatic, of pregnancy, 1 (1 variants)
• Progressive familial intrahepatic cholestasis type 1;Intrahepatic cholestasis with episodic jaundice (1 variants)
• Progressive familial intrahepatic cholestasis type 1;Benign recurrent intrahepatic cholestasis type 1;Cholestasis, intrahepatic, of pregnancy, 1 (1 variants)
• Benign recurrent intrahepatic cholestasis type 1;Progressive familial intrahepatic cholestasis type 1 (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ATP8B1-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	14	18	118	40	72	262
Total	14	18	118	40	72

Highest pathogenic variant AF is 0.0000329

Variants in ATP8B1-AS1

This is a list of pathogenic ClinVar variants found in the ATP8B1-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
18-57646472-AT-A		Progressive familial intrahepatic cholestasis	Benign (Jun 14, 2016)
18-57646543-G-A		Progressive familial intrahepatic cholestasis type 1	Uncertain significance (Jan 13, 2018)
18-57646548-T-C		Progressive familial intrahepatic cholestasis type 1	Benign (Jan 13, 2018)
18-57646551-A-T		Progressive familial intrahepatic cholestasis type 1	Benign (Jan 12, 2018)
18-57646637-C-G		Progressive familial intrahepatic cholestasis type 1	Uncertain significance (Apr 27, 2017)
18-57646655-C-T		Progressive familial intrahepatic cholestasis type 1	Uncertain significance (Jan 13, 2018)
18-57646692-C-T		Progressive familial intrahepatic cholestasis type 1	Uncertain significance (Jan 17, 2018)
18-57646765-C-T		Progressive familial intrahepatic cholestasis type 1	Benign (Jan 13, 2018)
18-57646812-C-T		Progressive familial intrahepatic cholestasis type 1	Uncertain significance (Jan 13, 2018)
18-57646859-A-G		Progressive familial intrahepatic cholestasis type 1	Uncertain significance (Mar 30, 2018)
18-57646935-A-C		Progressive familial intrahepatic cholestasis type 1	Likely benign (Jan 12, 2018)
18-57646942-T-G		Progressive familial intrahepatic cholestasis type 1	Uncertain significance (Jan 13, 2018)
18-57646964-A-G		Progressive familial intrahepatic cholestasis type 1	Uncertain significance (Jan 12, 2018)
18-57646979-T-C		Progressive familial intrahepatic cholestasis type 1	Benign (Jan 13, 2018)
18-57647085-C-T		Progressive familial intrahepatic cholestasis type 1	Uncertain significance (Jan 12, 2018)
18-57647155-A-C		Progressive familial intrahepatic cholestasis type 1	Uncertain significance (Jan 13, 2018)
18-57647234-A-G		Progressive familial intrahepatic cholestasis type 1	Benign (Jan 13, 2018)
18-57647245-A-G		Progressive familial intrahepatic cholestasis type 1	Uncertain significance (Jan 12, 2018)
18-57647355-T-C		Progressive familial intrahepatic cholestasis type 1	Uncertain significance (Jan 12, 2018)
18-57647393-T-A		Progressive familial intrahepatic cholestasis type 1	Uncertain significance (Jan 13, 2018)
18-57647405-A-G		Progressive familial intrahepatic cholestasis type 1	Uncertain significance (Jan 13, 2018)
18-57647520-A-T		Progressive familial intrahepatic cholestasis type 1	Uncertain significance (Jan 12, 2018)
18-57647588-C-A		Progressive familial intrahepatic cholestasis type 1	Benign (Jan 13, 2018)
18-57647588-C-T		Progressive familial intrahepatic cholestasis type 1	Likely benign (Jan 13, 2018)
18-57647589-G-A		Progressive familial intrahepatic cholestasis type 1	Uncertain significance (Apr 27, 2017)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP