KLHDC7B-DT

KLHDC7B divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 22:50542299-50548994

Links

ENSG00000272666 ∙ NCBI:105373098 ∙ ∙ HGNC:53791 ∙ ∙ ∙ 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 KLHDC7B-DT gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KLHDC7B-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						0
Total	0	0	0	0	0

Variants in KLHDC7B-DT

This is a list of pathogenic ClinVar variants found in the KLHDC7B-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
22-50547870-C-CCATCCCCAGCCCTAACCCCAGTCCCAACCCCAGCCCTAAGCCCAGCTCCAACTCCAGCCCCAACCCCAGCCG			Likely benign (Jan 01, 2023)
22-50548022-T-A			Likely benign (Jan 01, 2024)
22-50548034-C-A			Likely benign (Jan 01, 2024)
22-50548188-T-C		not specified	Uncertain significance (Jun 24, 2022)
22-50548221-C-T		not specified	Uncertain significance (Apr 08, 2024)
22-50548228-C-T		not specified	Uncertain significance (Dec 19, 2022)
22-50548312-T-C		not specified	Likely benign (Dec 13, 2021)
22-50548313-A-G		not specified	Likely benign (Aug 10, 2021)
22-50548374-A-T		not specified	Uncertain significance (Jun 16, 2023)
22-50548456-A-C		not specified	Uncertain significance (Dec 19, 2023)
22-50548464-A-T		not specified	Uncertain significance (Jun 18, 2021)
22-50548564-G-T		not specified	Uncertain significance (Nov 14, 2023)
22-50548653-G-A		not specified	Uncertain significance (Jan 24, 2024)
22-50548657-G-A		not specified	Uncertain significance (Sep 19, 2022)
22-50548665-G-A		not specified	Uncertain significance (Dec 15, 2023)
22-50548690-A-C		not specified	Uncertain significance (Nov 01, 2022)
22-50548709-G-C		not specified	Uncertain significance (Jan 03, 2022)
22-50548710-C-T		not specified	Uncertain significance (Oct 05, 2023)
22-50548738-G-A		not specified	Uncertain significance (May 05, 2023)
22-50548743-G-A		not specified	Uncertain significance (Jun 16, 2023)
22-50548747-T-G		not specified	Uncertain significance (Oct 12, 2022)
22-50548749-G-A		not specified	Uncertain significance (Aug 23, 2021)
22-50548750-T-G		not specified	Uncertain significance (Jan 27, 2022)
22-50548756-G-A		not specified	Uncertain significance (Jan 24, 2024)
22-50548762-G-A		not specified	Uncertain significance (Apr 22, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP