KIF5C-AS1

KIF5C antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 2:148866470-148888823

Links

ENSG00000231079 ∙ NCBI:112267889 ∙ ∙ HGNC:40325 ∙ ∙ ∙ 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 KIF5C-AS1 gene.

• not provided (16 variants)
• not specified (4 variants)
• Inborn genetic diseases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KIF5C-AS1 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			4	11	5	20
Total	0	0	4	11	5

Variants in KIF5C-AS1

This is a list of pathogenic ClinVar variants found in the KIF5C-AS1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
2-148874962-A-G			Likely benign (Jun 14, 2018)
2-148875010-A-G			Likely benign (Sep 16, 2018)
2-148875049-G-A			Likely benign (Jun 14, 2018)
2-148875136-C-A			Likely benign (Jun 14, 2018)
2-148875314-C-A			Likely benign (Sep 11, 2018)
2-148875574-G-A		not specified	Benign (Aug 16, 2016)
2-148875576-CCCCCCACCCATCCCCGTG-C		not specified	Likely benign (Sep 26, 2018)
2-148875582-A-C			Benign (Jun 14, 2018)
2-148875586-A-C			Benign (Aug 05, 2019)
2-148875587-T-A			Likely benign (Jun 06, 2020)
2-148875587-T-C			Benign (Jun 17, 2020)
2-148875592-G-C		not specified	Likely benign (Feb 08, 2017)
2-148875601-C-T		not specified	Likely benign (May 02, 2017)
2-148875616-AGAT-A			Uncertain significance (Aug 23, 2022)
2-148875627-C-A		not specified	Uncertain significance (Dec 11, 2023)
2-148875654-T-C			Uncertain significance (Nov 01, 2023)
2-148875696-G-A		Inborn genetic diseases	Uncertain significance (Mar 04, 2024)
2-148875705-A-G		Inborn genetic diseases	Uncertain significance (Aug 02, 2021)
2-148875725-T-C			Likely benign (Feb 01, 2021)
2-148875733-T-C			Uncertain significance (Mar 15, 2019)
2-148875741-G-C		Inborn genetic diseases	Uncertain significance (Jul 26, 2024)
2-148875789-C-T			Benign (Jul 07, 2018)
2-148875987-CG-C			Likely benign (Mar 17, 2019)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP