AFAP1-AS1

AFAP1 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 4:7754077-7778928

Previous symbols: [ "AFAP1AS", "AFAP1-AS" ]

Links

ENSG00000272620 ∙ NCBI:84740 ∙ OMIM:619779 ∙ HGNC:28141 ∙ ∙ ∙ 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 AFAP1-AS1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AFAP1-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			24	6	1	31
Total	0	0	24	6	1

Variants in AFAP1-AS1

This is a list of pathogenic ClinVar variants found in the AFAP1-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
4-7763774-G-A			Likely benign (May 01, 2023)
4-7763778-T-C		not specified	Uncertain significance (Sep 12, 2023)
4-7768866-C-T		not specified	Uncertain significance (Dec 18, 2023)
4-7768873-A-T		not specified	Uncertain significance (Aug 03, 2021)
4-7768876-G-A		not specified	Uncertain significance (Nov 09, 2024)
4-7768888-G-A		not specified	Uncertain significance (Dec 15, 2023)
4-7768890-G-A		not specified	Uncertain significance (Jun 16, 2023)
4-7768912-C-T		not specified	Uncertain significance (Mar 06, 2023)
4-7768913-G-A			Likely benign (Sep 01, 2022)
4-7768917-G-A		not specified	Uncertain significance (Jun 11, 2021)
4-7772841-C-G		not specified	Uncertain significance (Oct 10, 2023)
4-7772855-C-A		not specified	Uncertain significance (Aug 16, 2021)
4-7772855-C-T		not specified	Uncertain significance (Jun 26, 2024)
4-7772873-C-G		not specified	Uncertain significance (Apr 18, 2023)
4-7772884-G-A		not specified	Uncertain significance (Nov 23, 2024)
4-7772896-C-T		not specified	Uncertain significance (May 14, 2024)
4-7772906-C-T		not specified	Uncertain significance (Oct 12, 2024)
4-7772911-G-A		not specified	Uncertain significance (Apr 20, 2024)
4-7772941-G-A		not specified	Uncertain significance (Oct 04, 2022)
4-7772954-G-A		not specified	Uncertain significance (Apr 07, 2022)
4-7772958-C-T			Benign (May 24, 2018)
4-7772971-T-C		not specified	Likely benign (Mar 24, 2023)
4-7772980-T-C		not specified	Uncertain significance (Aug 02, 2021)
4-7772982-C-G		not specified	Likely benign (Feb 27, 2024)
4-7772995-G-A		not specified	Likely benign (Oct 21, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP