ABCF2-H2BK1

ABCF2-H2BK1 readthrough

Basic information

Region (hg38): 7:151207836-151227166

Previous symbols: [ "ABCF2-H2BE1" ]

Links

ENSG00000285292 ∙ NCBI:114483834 ∙ ∙ HGNC:54751 ∙ ∙ ∙ 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 ABCF2-H2BK1 gene.

• Inborn genetic diseases (9 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ABCF2-H2BK1 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			9			9
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	9	0	0

Variants in ABCF2-H2BK1

This is a list of pathogenic ClinVar variants found in the ABCF2-H2BK1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
7-151214139-C-T		not specified	Uncertain significance (Apr 15, 2024)
7-151214174-C-G		not specified	Uncertain significance (Feb 09, 2023)
7-151214965-C-T		not specified	Uncertain significance (Dec 16, 2022)
7-151215058-C-T		not specified	Uncertain significance (Sep 13, 2023)
7-151215639-T-G		not specified	Uncertain significance (Dec 14, 2023)
7-151218591-T-G		not specified	Uncertain significance (Feb 15, 2023)
7-151218772-C-G		not specified	Uncertain significance (Aug 20, 2023)
7-151218806-G-A		not specified	Uncertain significance (Jul 06, 2021)
7-151221579-G-A		not specified	Uncertain significance (Dec 20, 2023)
7-151223732-C-T		not specified	Uncertain significance (Apr 18, 2023)
7-151223783-A-G		not specified	Uncertain significance (Nov 07, 2022)
7-151223796-C-T		not specified	Uncertain significance (Jan 04, 2024)
7-151223994-A-C		not specified	Uncertain significance (Mar 15, 2024)
7-151224832-G-C		not specified	Uncertain significance (Feb 23, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP