REDIC1

Basic information

Region (hg38): 12:39626167-39908300

Links

ENSG00000180116 ∙ ∙ ∙ HGNC:26846 ∙ ∙ ∙ 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 REDIC1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the REDIC1 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						0
Total	0	0	0	0	0

Variants in REDIC1

This is a list of pathogenic ClinVar variants found in the REDIC1 region.

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

Position	Type	Phenotype	Significance	ClinVar
12-39646358-A-ATT		Spermatogenic Failure	Pathogenic (-)
12-39647842-A-G		not specified	Uncertain significance (Oct 14, 2021)
12-39650239-C-T		not specified	Uncertain significance (Sep 27, 2024)
12-39682706-C-G		not specified	Uncertain significance (Aug 09, 2021)
12-39683063-A-C		not specified	Uncertain significance (Oct 26, 2021)
12-39760097-A-G		not specified	Uncertain significance (Dec 11, 2023)
12-39760132-C-T		not specified	Uncertain significance (Nov 14, 2024)
12-39760159-A-G		not specified	Uncertain significance (Dec 03, 2024)
12-39760234-G-A		not specified	Uncertain significance (Nov 09, 2024)
12-39764499-G-C		not specified	Uncertain significance (Dec 16, 2023)
12-39764512-A-C		not specified	Uncertain significance (Oct 03, 2024)
12-39764544-C-A		not specified	Uncertain significance (Jan 23, 2024)
12-39764567-A-C		not specified	Uncertain significance (Jan 04, 2022)
12-39764815-C-T		not specified	Uncertain significance (Jun 21, 2021)
12-39830124-G-A		not specified	Uncertain significance (Feb 27, 2024)
12-39830176-T-C		not specified	Uncertain significance (Mar 04, 2024)
12-39864777-G-A		not specified	Uncertain significance (Jan 09, 2024)
12-39864817-T-C		not specified	Uncertain significance (Dec 03, 2024)
12-39864819-C-T		not specified	Uncertain significance (Nov 15, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP