KIF1C-AS1

KIF1C antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 17:5019214-5030970

Links

ENSG00000227495 ∙ NCBI:102724009 ∙ ∙ HGNC:40324 ∙ ∙ ∙ 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 KIF1C-AS1 gene.

• Spastic ataxia 2 (6 variants)
• not provided (5 variants)
• not specified (2 variants)
• Hereditary spastic paraplegia (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KIF1C-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			3	9		12
Total	0	0	3	9	0

Variants in KIF1C-AS1

This is a list of pathogenic ClinVar variants found in the KIF1C-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
17-5019897-A-G			Likely benign (Aug 03, 2019)
17-5019984-C-T		Spastic ataxia 2	Likely benign (Sep 05, 2022)
17-5019988-C-G		Spastic ataxia 2	Likely benign (Aug 03, 2022)
17-5020013-C-T			Uncertain significance (Jun 10, 2019)
17-5020033-A-T		not specified	Likely benign (Apr 05, 2017)
17-5020048-G-A			Likely benign (Apr 01, 2022)
17-5020056-C-T		Spastic ataxia 2	Uncertain significance (Jul 12, 2022)
17-5020060-G-A			Likely benign (Oct 01, 2021)
17-5020070-C-T		Spastic ataxia 2	Likely benign (Jul 31, 2023)
17-5020079-G-A		Spastic ataxia 2	Uncertain significance (Nov 21, 2022)
17-5020081-TAGA-T		Spastic ataxia 2 • Hereditary spastic paraplegia	Likely benign (Dec 14, 2023)
17-5020084-A-C		not specified	Conflicting classifications of pathogenicity (May 01, 2021)
17-5020462-G-A			Benign (Jun 26, 2018)
17-5020474-CCCT-C		not specified • Spastic ataxia 2	Likely benign (Mar 13, 2023)
17-5020485-T-A		not specified • Spastic ataxia 2 • Hereditary spastic paraplegia	Benign (Aug 01, 2024)
17-5020508-G-A		Spastic ataxia 2	Uncertain significance (May 05, 2022)
17-5020520-C-T		Spastic ataxia 2	Likely benign (Sep 01, 2022)
17-5020521-G-A		Inborn genetic diseases	Uncertain significance (Feb 23, 2023)
17-5020535-C-A		Spastic ataxia 2	Uncertain significance (Apr 24, 2021)
17-5020541-G-A		Spastic ataxia 2	Likely benign (Feb 08, 2023)
17-5020556-G-A		Spastic ataxia 2 • Hereditary spastic paraplegia	Benign/Likely benign (May 01, 2024)
17-5020560-C-T		Spastic ataxia 2	Likely benign (Dec 26, 2023)
17-5020577-C-T		Spastic ataxia 2	Likely benign (Dec 11, 2023)
17-5020579-C-A		Inborn genetic diseases	Uncertain significance (Mar 20, 2024)
17-5020583-C-G			Likely benign (Jun 11, 2018)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP