ADAMTS19-AS1

ADAMTS19 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 5:129351104-129466096

Links

ENSG00000249421 ∙ NCBI:103689846 ∙ ∙ HGNC:40797 ∙ ∙ ∙ 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 ADAMTS19-AS1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADAMTS19-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						0
Total	0	0	0	0	0

Variants in ADAMTS19-AS1

This is a list of pathogenic ClinVar variants found in the ADAMTS19-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
5-129461108-A-T		Inborn genetic diseases	Uncertain significance (Dec 12, 2023)
5-129461122-C-G		ADAMTS19-related disorder • Inborn genetic diseases	Uncertain significance (Nov 23, 2021)
5-129461123-G-T		Inborn genetic diseases	Uncertain significance (Nov 21, 2022)
5-129461137-G-A		Inborn genetic diseases	Uncertain significance (Dec 06, 2021)
5-129461150-C-G		Inborn genetic diseases	Uncertain significance (Sep 09, 2021)
5-129461150-C-T		Inborn genetic diseases	Uncertain significance (Feb 28, 2023)
5-129461167-C-A		Inborn genetic diseases	Uncertain significance (Jun 22, 2021)
5-129461227-G-C		Inborn genetic diseases	Uncertain significance (Jan 10, 2023)
5-129461245-CGG-C			Pathogenic (Jun 27, 2022)
5-129461261-G-A		Inborn genetic diseases	Uncertain significance (May 29, 2024)
5-129461279-GC-G			Pathogenic (Jun 27, 2022)
5-129461311-G-A		Inborn genetic diseases	Uncertain significance (May 04, 2022)
5-129461321-G-C		Inborn genetic diseases	Uncertain significance (Dec 13, 2022)
5-129461345-C-T		Inborn genetic diseases	Uncertain significance (May 31, 2023)
5-129461392-C-G		Inborn genetic diseases	Uncertain significance (Jun 29, 2023)
5-129461417-C-A		not specified	Uncertain significance (Mar 29, 2024)
5-129461426-C-G		Inborn genetic diseases	Uncertain significance (Dec 08, 2023)
5-129461449-C-A		Inborn genetic diseases	Uncertain significance (Mar 31, 2022)
5-129461462-C-T		Inborn genetic diseases	Uncertain significance (Jan 29, 2024)
5-129461471-C-A		Inborn genetic diseases	Uncertain significance (Apr 23, 2024)
5-129461485-C-T		Inborn genetic diseases	Uncertain significance (Apr 23, 2024)
5-129461507-C-T		Inborn genetic diseases	Uncertain significance (Jun 10, 2024)
5-129461521-G-C		Inborn genetic diseases	Uncertain significance (Jul 25, 2023)
5-129461565-G-C			Benign (Jul 05, 2018)
5-129461578-G-A		ADAMTS19-related disorder	Likely benign (Jul 29, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP