ANKHD1-DT

ANKHD1 divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 5:140365437-140401706

Links

ENSG00000249637 ∙ ∙ ∙ HGNC:55564 ∙ ∙ ∙ 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 ANKHD1-DT gene.

• Inborn genetic diseases (7 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANKHD1-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			7			7
Total	0	0	7	0	0

Variants in ANKHD1-DT

This is a list of pathogenic ClinVar variants found in the ANKHD1-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
5-140365834-G-A		not specified	Uncertain significance (Jun 03, 2022)
5-140365852-G-A		not specified	Uncertain significance (Jun 16, 2024)
5-140365882-C-T		not specified	Uncertain significance (Mar 13, 2023)
5-140365883-G-A		not specified	Likely benign (Dec 21, 2023)
5-140365901-G-A		not specified	Uncertain significance (Nov 19, 2022)
5-140365919-C-T		not specified	Uncertain significance (May 02, 2023)
5-140365939-T-C		not specified	Uncertain significance (Jan 20, 2023)
5-140365961-C-T		not specified	Uncertain significance (Jan 24, 2023)
5-140366005-C-T		not specified	Uncertain significance (Mar 22, 2023)
5-140366031-C-T			Benign (May 14, 2018)
5-140366169-G-A		not specified	Uncertain significance (Dec 07, 2023)
5-140366235-C-G		not specified	Uncertain significance (Jul 14, 2022)
5-140367427-T-C		not specified	Uncertain significance (Dec 14, 2023)
5-140367435-C-T		not specified	Uncertain significance (Apr 21, 2022)
5-140367462-G-C		not specified	Uncertain significance (May 04, 2022)
5-140367486-G-A		not specified	Uncertain significance (May 14, 2024)
5-140367781-C-T		not specified	Likely benign (Jun 01, 2023)
5-140367840-C-G		not specified	Uncertain significance (Mar 02, 2023)
5-140367870-G-A		not specified	Uncertain significance (Mar 01, 2023)
5-140367882-A-C		not specified	Uncertain significance (Dec 06, 2022)
5-140368625-C-T		not specified	Uncertain significance (Jun 09, 2022)
5-140371532-A-G		not specified	Uncertain significance (Sep 25, 2023)
5-140371587-T-C		not specified	Uncertain significance (Aug 30, 2021)
5-140371595-A-C		not specified	Uncertain significance (Apr 25, 2022)
5-140371614-T-C		not specified	Uncertain significance (Dec 28, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP