IGFBP7-AS1

IGFBP7 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 4:57109736-57207459

Links

ENSG00000245067 ∙ NCBI:255130 ∙ ∙ HGNC:40296 ∙ ∙ ∙ 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 IGFBP7-AS1 gene.

• Inborn genetic diseases (9 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IGFBP7-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			9			9
Total	0	0	9	0	0

Variants in IGFBP7-AS1

This is a list of pathogenic ClinVar variants found in the IGFBP7-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
4-57109921-C-T		IGFBP7-related disorder • Inborn genetic diseases	Uncertain significance (May 20, 2024)
4-57109949-C-T		IGFBP7-related disorder	Benign (Nov 11, 2019)
4-57109982-C-T		Inborn genetic diseases	Uncertain significance (Jul 06, 2021)
4-57110038-G-C		Inborn genetic diseases	Uncertain significance (Jun 30, 2022)
4-57110042-C-T		Inborn genetic diseases	Uncertain significance (Sep 27, 2022)
4-57110078-T-C		Inborn genetic diseases	Uncertain significance (Mar 28, 2024)
4-57110097-C-T		Inborn genetic diseases	Uncertain significance (Aug 13, 2021)
4-57110102-C-T		Inborn genetic diseases	Uncertain significance (Jul 13, 2022)
4-57110119-C-T		Inborn genetic diseases	Uncertain significance (Dec 21, 2022)
4-57110123-C-T		Inborn genetic diseases	Uncertain significance (Oct 29, 2021)
4-57110126-C-T		Inborn genetic diseases	Uncertain significance (Oct 05, 2021)
4-57110159-G-A		Inborn genetic diseases	Uncertain significance (Mar 25, 2024)
4-57110185-G-A		Inborn genetic diseases	Uncertain significance (Dec 21, 2022)
4-57110251-G-T		IGFBP7-related disorder	Likely benign (Dec 28, 2022)
4-57110269-G-A		Inborn genetic diseases	Uncertain significance (Feb 27, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP