SMAD1-AS1

SMAD1 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 4:145514615-145517118

Links

ENSG00000250902 ∙ ∙ ∙ HGNC:49379 ∙ ∙ ∙ 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 SMAD1-AS1 gene.

• not provided (8 variants)
• Inborn genetic diseases (3 variants)
• Pulmonary hypertension, primary, 1 (1 variants)
• Variant of unknown significance (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SMAD1-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			4	1	7	12
Total	0	0	4	1	7

Variants in SMAD1-AS1

This is a list of pathogenic ClinVar variants found in the SMAD1-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
4-145514621-T-C		Variant of unknown significance • Pulmonary hypertension, primary, 1	Uncertain significance (Dec 01, 2011)
4-145514795-C-T		not specified	Uncertain significance (May 15, 2023)
4-145514916-T-A		not specified	Uncertain significance (Jul 19, 2022)
4-145514936-G-A		not specified	Uncertain significance (Jul 13, 2022)
4-145514997-G-C		not specified	Uncertain significance (Oct 08, 2024)
4-145515134-CTG-C			Benign (Oct 20, 2020)
4-145515134-CTGTG-C			Benign (May 24, 2021)
4-145515134-CTGTGTGTG-C			Benign (May 20, 2021)
4-145515134-C-CTG			Benign (May 19, 2021)
4-145515134-C-CTGTG			Benign (Sep 29, 2019)
4-145515134-C-CTGTGTG			Benign (Sep 29, 2019)
4-145515170-G-GTGTGTC			Likely benign (Nov 20, 2020)
4-145515199-A-G			Benign (Jul 12, 2019)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP