HAND2-AS1

HAND2 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 4:173521334-173697469

Links

ENSG00000237125 ∙ NCBI:79804 ∙ OMIM:617240 ∙ HGNC:48872 ∙ ∙ ∙ 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 HAND2-AS1 gene.

• not provided (26 variants)
• Inborn genetic diseases (8 variants)
• HAND2-related condition (5 variants)
• Dilated cardiomyopathy 1A (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the HAND2-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	1	1	26	5	6	39
Total	1	1	26	5	6

Variants in HAND2-AS1

This is a list of pathogenic ClinVar variants found in the HAND2-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
4-173527281-T-G			Likely benign (Apr 07, 2023)
4-173527283-C-G		Inborn genetic diseases	Uncertain significance (Apr 06, 2024)
4-173527284-T-C			Uncertain significance (Aug 10, 2022)
4-173527337-C-G			Uncertain significance (Jun 22, 2022)
4-173527346-G-T			Uncertain significance (Dec 10, 2023)
4-173527357-T-G		Inborn genetic diseases	Uncertain significance (May 01, 2024)
4-173527393-G-C			Benign/Likely benign (Jan 14, 2024)
4-173528787-T-C			Uncertain significance (Oct 01, 2021)
4-173528798-C-T		HAND2-related disorder	Likely benign (Jun 15, 2023)
4-173528806-C-T		Inborn genetic diseases	Uncertain significance (May 22, 2023)
4-173528831-G-A			Benign (May 21, 2022)
4-173528882-GGA-G			Uncertain significance (Jun 23, 2022)
4-173528900-G-T			Likely pathogenic (-)
4-173528905-C-T		HAND2-related disorder	Uncertain significance (Mar 02, 2023)
4-173528907-T-C		Inborn genetic diseases	Uncertain significance (Mar 28, 2023)
4-173528925-A-G			Uncertain significance (Apr 09, 2021)
4-173528966-C-T		HAND2-related disorder	Likely benign (Mar 16, 2023)
4-173528999-C-T			Benign (Dec 24, 2021)
4-173529000-G-C		HAND2-related disorder	Uncertain significance (Mar 07, 2023)
4-173529007-G-C			Uncertain significance (Aug 22, 2022)
4-173529007-GC-G		HAND2-related disorder	Uncertain significance (Mar 04, 2024)
4-173529013-C-A			Uncertain significance (Jan 01, 2023)
4-173529013-C-G		Inborn genetic diseases	Uncertain significance (Jun 09, 2022)
4-173529021-G-C			Likely benign (Sep 30, 2023)
4-173529031-C-A		Inborn genetic diseases	Uncertain significance (Jun 02, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP