GATA2-AS1

GATA2 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 3:128488130-128539314

Links

ENSG00000244300 ∙ NCBI:101927167 ∙ ∙ HGNC:51108 ∙ ∙ ∙ 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 GATA2-AS1 gene.

• not specified (8 variants)
• Deafness-lymphedema-leukemia syndrome (7 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GATA2-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			10	1	3	14
Total	0	0	10	1	3

Variants in GATA2-AS1

This is a list of pathogenic ClinVar variants found in the GATA2-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
3-128492886-G-A		Deafness-lymphedema-leukemia syndrome	Likely benign (Jan 12, 2018)
3-128492907-G-A		not specified	Benign (Jan 03, 2020)
3-128492952-T-C		not specified	Uncertain significance (Oct 10, 2018)
3-128492959-A-C		not specified	Benign (Mar 28, 2019)
3-128492967-G-A		Deafness-lymphedema-leukemia syndrome	Uncertain significance (Apr 28, 2017)
3-128492973-G-C		not specified	Uncertain significance (Mar 13, 2019)
3-128493032-C-G		not specified	Uncertain significance (Oct 18, 2017)
3-128493033-G-T		Deafness-lymphedema-leukemia syndrome	Uncertain significance (Jun 14, 2016)
3-128493046-G-A		Deafness-lymphedema-leukemia syndrome	Uncertain significance (Jan 13, 2018)
3-128493067-C-T		Deafness-lymphedema-leukemia syndrome	Uncertain significance (Jan 12, 2018)
3-128493068-G-A		Deafness-lymphedema-leukemia syndrome	Uncertain significance (Jan 13, 2018)
3-128493129-A-C		Deafness-lymphedema-leukemia syndrome • not specified	Benign (Jan 13, 2018)
3-128493167-C-T		not specified	Uncertain significance (Nov 25, 2018)
3-128493180-GC-G		not specified	Uncertain significance (Mar 18, 2020)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP