ERICH2-DT

ERICH2 divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 2:170700343-170818037

Links

ENSG00000234350 ∙ NCBI:101926913 ∙ ∙ HGNC:55686 ∙ ∙ ∙ 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 ERICH2-DT gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ERICH2-DT 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			35	1		36
Total	0	0	35	1	0

Variants in ERICH2-DT

This is a list of pathogenic ClinVar variants found in the ERICH2-DT region.

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

Position	Type	Phenotype	Significance	ClinVar
2-170716412-C-T		not specified	Uncertain significance (Jan 19, 2025)
2-170716430-G-C		not specified	Uncertain significance (Oct 16, 2024)
2-170716438-G-A		not specified	Uncertain significance (Oct 13, 2023)
2-170716464-C-T		not specified	Uncertain significance (Jun 19, 2024)
2-170716508-C-A		not specified	Uncertain significance (Dec 02, 2024)
2-170716514-C-T		not specified	Uncertain significance (Feb 18, 2025)
2-170716530-C-T		not specified	Uncertain significance (Sep 02, 2024)
2-170716535-G-C		not specified	Uncertain significance (Dec 28, 2022)
2-170716541-C-T		not specified	Uncertain significance (Jun 16, 2023)
2-170716589-G-T		not specified	Uncertain significance (Oct 02, 2023)
2-170716611-T-C		not specified	Uncertain significance (Sep 16, 2021)
2-170716659-C-G		not specified	Uncertain significance (Jan 17, 2024)
2-170716676-C-T		not specified	Uncertain significance (Oct 05, 2023)
2-170716722-C-G		not specified	Uncertain significance (Dec 11, 2023)
2-170716727-A-G		not specified	Uncertain significance (Feb 06, 2023)
2-170716781-A-G		not specified	Uncertain significance (Aug 21, 2023)
2-170716799-G-C		not specified	Uncertain significance (May 04, 2023)
2-170716823-G-C		not specified	Uncertain significance (Aug 02, 2021)
2-170716845-G-T		not specified	Uncertain significance (Jan 26, 2022)
2-170716847-G-A		not specified	Uncertain significance (Nov 18, 2023)
2-170716847-G-C		not specified	Uncertain significance (Jan 24, 2024)
2-170716854-C-A		not specified	Uncertain significance (Aug 17, 2022)
2-170716869-G-C		not specified	Uncertain significance (Sep 24, 2024)
2-170716889-G-A		not specified	Uncertain significance (Dec 11, 2023)
2-170716895-G-A		not specified	Uncertain significance (Mar 03, 2025)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP