SEPTIN9-DT

SEPTIN9 divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 17:77256954-77282102

Links

ENSG00000263718 ∙ NCBI:105371907 ∙ ∙ HGNC:52818 ∙ ∙ ∙ 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 SEPTIN9-DT gene.

• not provided (10 variants)
• not specified (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SEPTIN9-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			1	5	5	11
Total	0	0	1	5	5

Variants in SEPTIN9-DT

This is a list of pathogenic ClinVar variants found in the SEPTIN9-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
17-77281145-G-T			Benign (Jul 15, 2018)
17-77281348-C-G			Benign (Jul 15, 2018)
17-77281351-T-G			Benign (Jul 21, 2018)
17-77281386-G-T			Benign (Aug 06, 2019)
17-77281498-C-T			Likely benign (Aug 07, 2018)
17-77281529-A-C		SEPTIN9-related disorder	Benign (Jul 06, 2018)
17-77281555-GT-G		not specified	Uncertain significance (Oct 24, 2022)
17-77281643-C-T			Likely benign (Aug 07, 2018)
17-77281807-C-G			Likely benign (Aug 30, 2018)
17-77281874-G-A			Likely benign (Jul 31, 2018)
17-77281875-C-G			Likely benign (Feb 24, 2019)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP