SMARCAL1-AS1

SMARCAL1 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 2:216385021-216412699

Links

ENSG00000235042 ∙ NCBI:107985985 ∙ ∙ HGNC:40555 ∙ ∙ ∙ 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 SMARCAL1-AS1 gene.

• Schimke immuno-osseous dysplasia (10 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SMARCAL1-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			7	2	1	10
Total	0	0	7	2	1

Variants in SMARCAL1-AS1

This is a list of pathogenic ClinVar variants found in the SMARCAL1-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
2-216412428-T-C		Schimke immuno-osseous dysplasia	Uncertain significance (Feb 16, 2018)
2-216412444-G-C		Schimke immuno-osseous dysplasia	Uncertain significance (Jan 12, 2018)
2-216412482-C-G		Schimke immuno-osseous dysplasia	Uncertain significance (Jan 12, 2018)
2-216412526-C-T		Schimke immuno-osseous dysplasia	Benign (Jan 12, 2018)
2-216412544-G-A		Schimke immuno-osseous dysplasia	Likely benign (Apr 27, 2017)
2-216412574-C-T		Schimke immuno-osseous dysplasia	Uncertain significance (Jan 12, 2018)
2-216412580-G-A		Schimke immuno-osseous dysplasia	Uncertain significance (Jan 13, 2018)
2-216412603-G-A		Schimke immuno-osseous dysplasia	Uncertain significance (Jan 13, 2018)
2-216412607-A-G		Schimke immuno-osseous dysplasia	Likely benign (Apr 27, 2017)
2-216412630-G-A		Schimke immuno-osseous dysplasia	Uncertain significance (Jan 12, 2018)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP