ZNF625-ZNF20

ZNF625-ZNF20 readthrough (NMD candidate)

Basic information

Region (hg38): 19:12132117-12156731

Links

ENSG00000213297 ∙ NCBI:100529855 ∙ ∙ HGNC:48368 ∙ ∙ ∙ 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 ZNF625-ZNF20 gene.

• Inborn genetic diseases (26 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF625-ZNF20 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			24	2		26
Total	0	0	24	2	0

Variants in ZNF625-ZNF20

This is a list of pathogenic ClinVar variants found in the ZNF625-ZNF20 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-12132609-C-A		not specified	Uncertain significance (Jun 21, 2023)
19-12132636-C-T		not specified	Uncertain significance (Aug 17, 2022)
19-12132754-G-A		not specified	Uncertain significance (Oct 05, 2023)
19-12132931-C-T		not specified	Uncertain significance (Dec 21, 2023)
19-12132934-T-C		not specified	Uncertain significance (Apr 12, 2022)
19-12132954-C-T		not specified	Likely benign (Jun 29, 2023)
19-12133023-G-A		not specified	Likely benign (May 27, 2022)
19-12133090-G-A		not specified	Uncertain significance (Nov 01, 2022)
19-12133118-C-A		not specified	Uncertain significance (Dec 19, 2023)
19-12133119-C-T		not specified	Uncertain significance (Nov 06, 2023)
19-12133183-C-T		not specified	Uncertain significance (Jul 25, 2023)
19-12133194-C-T		not specified	Uncertain significance (Nov 17, 2022)
19-12133310-G-C		not specified	Uncertain significance (Nov 14, 2023)
19-12133315-C-T		not specified	Uncertain significance (Sep 02, 2024)
19-12133386-G-C		not specified	Uncertain significance (Nov 25, 2024)
19-12133423-C-T		not specified	Uncertain significance (Sep 14, 2023)
19-12133473-C-T		not specified	Uncertain significance (Sep 03, 2024)
19-12133506-T-C		not specified	Uncertain significance (Sep 07, 2022)
19-12133621-G-A		not specified	Uncertain significance (Apr 10, 2023)
19-12133636-A-C		not specified	Uncertain significance (Sep 20, 2023)
19-12133795-T-C		not specified	Uncertain significance (Jun 22, 2023)
19-12133909-T-A		not specified	Uncertain significance (Jan 23, 2023)
19-12133966-A-G		not specified	Uncertain significance (Nov 07, 2024)
19-12135520-T-A		not specified	Uncertain significance (Dec 22, 2023)
19-12135549-T-G		not specified	Uncertain significance (Oct 20, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• pHI: 0.188
• ghis: 0.399