FLVCR2-AS1

FLVCR2 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 14:75561588-75579657

Links

ENSG00000224721 ∙ NCBI:102724153 ∙ ∙ HGNC:55854 ∙ ∙ ∙ 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 FLVCR2-AS1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FLVCR2-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	31	16	8	58
Total	0	3	31	16	8

Variants in FLVCR2-AS1

This is a list of pathogenic ClinVar variants found in the FLVCR2-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
14-75578407-G-C			Likely benign (Jan 05, 2020)
14-75578617-G-C		Fowler syndrome	Benign (Oct 28, 2019)
14-75578850-GTC-G		Fowler syndrome	Benign (Nov 26, 2021)
14-75578862-T-C		Posterior column ataxia-retinitis pigmentosa syndrome	Benign/Likely benign (Dec 13, 2019)
14-75578877-T-C		Posterior column ataxia-retinitis pigmentosa syndrome	Benign (Nov 11, 2018)
14-75578902-C-T		Posterior column ataxia-retinitis pigmentosa syndrome	Benign (Nov 23, 2019)
14-75578980-A-G		Inborn genetic diseases	Uncertain significance (Oct 01, 2022)
14-75579019-T-C		not specified • Posterior column ataxia-retinitis pigmentosa syndrome • Fowler syndrome	Benign (Jan 29, 2024)
14-75579022-C-CG		Fowler syndrome	Pathogenic/Likely pathogenic (Sep 14, 2023)
14-75579023-G-A			Likely benign (Nov 27, 2023)
14-75579041-G-A		Posterior column ataxia-retinitis pigmentosa syndrome	Uncertain significance (Jan 13, 2018)
14-75579044-CCCCAGCGTCTCGGTCCAT-C		FLVCR2-related disorder	Likely benign (Jan 29, 2024)
14-75579050-C-A		Posterior column ataxia-retinitis pigmentosa syndrome	Uncertain significance (Jan 13, 2018)
14-75579051-G-A			Uncertain significance (Jun 13, 2022)
14-75579075-G-A		Inborn genetic diseases	Conflicting classifications of pathogenicity (May 06, 2022)
14-75579107-C-T			Likely benign (May 02, 2018)
14-75579124-G-T		Inborn genetic diseases	Uncertain significance (Sep 03, 2024)
14-75579128-G-T			Likely benign (Jun 07, 2022)
14-75579136-C-T		Posterior column ataxia-retinitis pigmentosa syndrome • Inborn genetic diseases	Uncertain significance (Dec 27, 2023)
14-75579149-CCAACCCAGTGGCTTGGCT-C			Uncertain significance (Oct 19, 2022)
14-75579161-CT-C		Fowler syndrome	Likely pathogenic (Apr 20, 2023)
14-75579195-C-T		Inborn genetic diseases	Uncertain significance (May 08, 2024)
14-75579216-A-T			Uncertain significance (Jan 02, 2025)
14-75579223-G-A			Uncertain significance (Aug 13, 2022)
14-75579231-G-A		Inborn genetic diseases	Uncertain significance (Aug 01, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP