ZNF691-DT

ZNF691 divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 1:42832522-42891484

Links

ENSG00000228192 ∙ ∙ ∙ HGNC:55800 ∙ ∙ ∙ 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 ZNF691-DT gene.

• Inborn genetic diseases (6 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF691-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			6			6
Total	0	0	6	0	0

Variants in ZNF691-DT

This is a list of pathogenic ClinVar variants found in the ZNF691-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
1-42840275-A-G		not specified	Uncertain significance (May 30, 2024)
1-42840284-C-T		not specified	Uncertain significance (Mar 30, 2024)
1-42840285-G-A		not specified	Uncertain significance (Apr 16, 2024)
1-42842593-A-G		ERMAP-related disorder	Likely benign (Jun 27, 2019)
1-42842610-T-C		not specified	Uncertain significance (Jun 18, 2024)
1-42842617-C-A		not specified	Uncertain significance (Nov 22, 2023)
1-42842670-C-T		not specified	Uncertain significance (Dec 08, 2023)
1-42842837-C-T		not specified	Uncertain significance (Apr 06, 2022)
1-42842839-G-A		ERMAP-related disorder	Likely benign (Aug 08, 2019)
1-42842849-T-A		not specified	Uncertain significance (Jan 24, 2024)
1-42842909-A-G		not specified	Uncertain significance (Aug 02, 2021)
1-42842998-C-G		not specified	Uncertain significance (May 06, 2022)
1-42843097-T-A		not specified	Uncertain significance (Apr 07, 2022)
1-42843144-C-G		not specified	Uncertain significance (Apr 25, 2023)
1-42843182-C-T		not specified	Uncertain significance (May 24, 2023)
1-42849669-G-C		not specified	Uncertain significance (Feb 26, 2024)
1-42849677-A-G		not specified	Likely benign (Jul 25, 2023)
1-42849701-T-C		not specified	Uncertain significance (Aug 14, 2023)
1-42849714-C-G		not specified	Uncertain significance (Aug 23, 2021)
1-42851004-G-A		not specified	Uncertain significance (May 30, 2024)
1-42851008-G-A		not specified	Uncertain significance (Jan 10, 2023)
1-42851017-G-A		not specified	Uncertain significance (Sep 17, 2021)
1-42851046-G-T		not specified	Uncertain significance (Apr 25, 2022)
1-42851062-C-A		not specified	Uncertain significance (Sep 06, 2022)
1-42851125-A-T		not specified	Uncertain significance (Jan 05, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP