RIPK2-DT

RIPK2 divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 8:89545423-89902429

Links

ENSG00000251136 ∙ NCBI:101929709 ∙ ∙ HGNC:55545 ∙ ∙ ∙ 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 RIPK2-DT gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RIPK2-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						0
Total	0	0	0	0	0

Variants in RIPK2-DT

This is a list of pathogenic ClinVar variants found in the RIPK2-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
8-89758206-T-G		not specified	Uncertain significance (Nov 06, 2023)
8-89762924-T-G		not specified	Uncertain significance (Sep 29, 2023)
8-89762955-T-C			Likely benign (Aug 22, 2018)
8-89762965-A-G			Uncertain significance (Feb 01, 2023)
8-89765389-C-T		not specified	Uncertain significance (Oct 08, 2024)
8-89765483-A-G		not specified	Uncertain significance (Nov 18, 2023)
8-89766285-G-A		Leprosy, susceptibility to, 1	Uncertain risk allele (Jun 10, 2022)
8-89769793-A-G		not specified	Uncertain significance (Oct 01, 2024)
8-89769800-G-A		not specified	Uncertain significance (Jul 09, 2021)
8-89769802-A-G		not specified	Uncertain significance (Aug 01, 2022)
8-89769803-T-C		not specified	Uncertain significance (Jan 08, 2024)
8-89769900-A-T			Benign (May 31, 2018)
8-89772697-G-A		not specified	Uncertain significance (Jan 19, 2025)
8-89772756-C-T		not specified	Uncertain significance (Sep 09, 2024)
8-89772762-G-A		not specified	Uncertain significance (Apr 22, 2022)
8-89772765-C-T		not specified	Uncertain significance (Dec 04, 2024)
8-89772766-G-A		not specified	Likely benign (Jun 09, 2022)
8-89772777-C-G			Benign (Feb 26, 2018)
8-89772790-G-A		not specified	Uncertain significance (Feb 11, 2022)
8-89780141-T-C		not specified	Uncertain significance (Jun 07, 2024)
8-89780156-C-T		not specified	Uncertain significance (Feb 15, 2023)
8-89784119-G-A		not specified	Uncertain significance (Nov 29, 2023)
8-89784141-TAAA-T		not specified	Benign (Mar 28, 2016)
8-89784141-T-TA			Benign (Oct 16, 2024)
8-89786627-G-C		not specified	Uncertain significance (Dec 28, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP