ABCF2-H2BK1

ABCF2-H2BK1 readthrough

Basic information

Region (hg38): 7:151207837-151227166

Previous symbols: [ "ABCF2-H2BE1" ]

Links

ENSG00000285292NCBI:114483834HGNC:54751GenCCjaxSfariGnomADPubmedClinVar

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
clinvar
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)3308070
7-151214174-C-G not specified Uncertain significance (Feb 09, 2023)2482548
7-151214965-C-T not specified Uncertain significance (Dec 16, 2022)2335975
7-151215058-C-T not specified Uncertain significance (Sep 13, 2023)2623221
7-151215639-T-G not specified Uncertain significance (Dec 14, 2023)3129409
7-151218591-T-G not specified Uncertain significance (Feb 15, 2023)2484802
7-151218772-C-G not specified Uncertain significance (Aug 20, 2023)2619585
7-151218806-G-A not specified Uncertain significance (Jul 06, 2021)2234568
7-151221579-G-A not specified Uncertain significance (Dec 20, 2023)3129424
7-151223732-C-T not specified Uncertain significance (Apr 18, 2023)2507809
7-151223783-A-G not specified Uncertain significance (Nov 07, 2022)2384433
7-151223796-C-T not specified Uncertain significance (Jan 04, 2024)3129415
7-151223994-A-C not specified Uncertain significance (Mar 15, 2024)3308079
7-151224832-G-C not specified Uncertain significance (Feb 23, 2023)2488102

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP