ATF6-DT

ATF6 divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 1:161748537-161766488

Links

ENSG00000226889 ∙ NCBI:102724329 ∙ ∙ HGNC:55826 ∙ ∙ ∙ 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 ATF6-DT gene.

• Inborn genetic diseases (15 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ATF6-DT 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			15			15
Total	0	0	15	0	0

Variants in ATF6-DT

This is a list of pathogenic ClinVar variants found in the ATF6-DT region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
1-161749826-G-A		not specified	Uncertain significance (Oct 21, 2021)
1-161749866-G-C		not specified	Likely benign (Dec 11, 2023)
1-161749875-G-A		not specified	Uncertain significance (Feb 07, 2023)
1-161749985-G-A		not specified	Uncertain significance (Jan 16, 2024)
1-161749988-G-A		not specified	Uncertain significance (Nov 21, 2022)
1-161749992-C-T		not specified	Uncertain significance (May 20, 2024)
1-161750031-G-A		not specified	Uncertain significance (Dec 16, 2022)
1-161750060-G-A		not specified	Uncertain significance (Mar 07, 2024)
1-161750103-T-C		not specified	Uncertain significance (Nov 19, 2022)
1-161750132-G-C		not specified	Uncertain significance (May 30, 2024)
1-161751718-A-C		not specified	Uncertain significance (Dec 09, 2023)
1-161751907-C-T		not specified	Uncertain significance (Aug 17, 2021)
1-161751951-T-C		not specified	Uncertain significance (Jun 19, 2024)
1-161751959-A-C		not specified	Uncertain significance (Sep 12, 2023)
1-161751966-G-C		not specified	Uncertain significance (Oct 26, 2021)
1-161751981-C-G		not specified	Uncertain significance (Oct 27, 2023)
1-161753113-G-A		not specified	Likely benign (Dec 21, 2023)
1-161753143-A-C		not specified	Uncertain significance (Sep 27, 2021)
1-161753146-A-G		not specified	Uncertain significance (Mar 01, 2024)
1-161753154-A-G		not specified	Uncertain significance (Mar 29, 2024)
1-161753226-A-G		not specified	Uncertain significance (May 18, 2023)
1-161756789-C-A		not specified	Uncertain significance (Feb 28, 2023)
1-161756789-C-T		not specified	Uncertain significance (Jun 24, 2022)
1-161756841-A-G		not specified	Uncertain significance (Dec 21, 2022)
1-161756864-A-G		not specified	Uncertain significance (Oct 22, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP