RUNX1-AS1

Basic information

Region (hg38): 21:34836286-34884882

Links

ENSG00000286153 ∙ ∙ ∙ HGNC:56821 ∙ ∙ ∙ 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 RUNX1-AS1 gene.

• Hereditary thrombocytopenia and hematologic cancer predisposition syndrome (35 variants)
• Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 (28 variants)
• not provided (12 variants)
• Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1;Acute myeloid leukemia (3 variants)
• RUNX1-related disorder (3 variants)
• Thrombocytopenia (3 variants)
• Acute myeloid leukemia (2 variants)
• Inherited bleeding disorder, platelet-type (1 variants)
• Abnormal bleeding;Thrombocytopenia (1 variants)
• Inborn genetic diseases (1 variants)
• Abnormal platelet function (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RUNX1-AS1 gene is commonly pathogenic or not. These statistics are base on transcript: . Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	0	0	0

Highest pathogenic variant AF is 0.00000657886

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP