AHI1-DT

AHI1 divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 6:135497422-135894890

Previous symbols: [ "C6orf217", "NCRNA00271", "LINC00271" ]

Links

ENSG00000231028 ∙ NCBI:100131814 ∙ ∙ HGNC:32526 ∙ Uniprot:P0C7V0 ∙ AlphaFold ∙ 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 AHI1-DT gene.

• Joubert syndrome 3 (8 variants)
• not provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AHI1-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	1	3	10
Total	0	0	6	1	3

Variants in AHI1-DT

This is a list of pathogenic ClinVar variants found in the AHI1-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
6-135497542-G-A			Benign (Jun 17, 2020)
6-135497595-G-A		Joubert syndrome 3	Uncertain significance (Jan 13, 2018)
6-135497680-C-T		Joubert syndrome 3	Benign (Dec 30, 2019)
6-135497713-G-C		Joubert syndrome 3	Uncertain significance (Jan 13, 2018)
6-135497728-G-A		Joubert syndrome 3	Uncertain significance (Jan 13, 2018)
6-135497743-C-T		Joubert syndrome 3	Uncertain significance (Jan 13, 2018)
6-135497750-C-T		Joubert syndrome 3	Uncertain significance (Jan 12, 2018)
6-135497752-G-C		Joubert syndrome 3	Uncertain significance (Jan 13, 2018)
6-135497759-C-A		Joubert syndrome 3	Benign (Jan 28, 2020)
6-135497787-A-G			Likely benign (Jan 12, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP