NRIP3-DT

NRIP3 divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 11:9004093-9067776

Links

ENSG00000253973 ∙ NCBI:105376541 ∙ ∙ HGNC:55524 ∙ ∙ ∙ 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 NRIP3-DT gene.

• Inborn genetic diseases (33 variants)
• not provided (2 variants)
• Cerebral arteriovenous malformation (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NRIP3-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		1	32	3		36
Total	0	1	32	3	0

Variants in NRIP3-DT

This is a list of pathogenic ClinVar variants found in the NRIP3-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
11-9021057-T-A		not specified	Uncertain significance (Oct 22, 2021)
11-9021083-G-A		not specified	Uncertain significance (Mar 02, 2023)
11-9021140-T-G		not specified	Uncertain significance (Dec 10, 2024)
11-9021185-T-C		not specified	Uncertain significance (Aug 22, 2023)
11-9021188-G-A		not specified	Uncertain significance (Dec 14, 2021)
11-9021892-T-C		not specified	Uncertain significance (Jun 07, 2024)
11-9021929-T-C		not specified	Uncertain significance (Jun 07, 2024)
11-9025701-C-G			Likely benign (Dec 04, 2018)
11-9025737-G-A		not specified	Uncertain significance (Dec 22, 2023)
11-9025798-C-T		not specified	Uncertain significance (Sep 12, 2023)
11-9027367-T-C		not specified	Uncertain significance (Apr 23, 2024)
11-9027397-C-T		not specified	Uncertain significance (Nov 09, 2024)
11-9027442-G-A		not specified	Uncertain significance (Mar 06, 2023)
11-9027450-G-T		not specified	Uncertain significance (Feb 15, 2023)
11-9027451-G-C		not specified	Uncertain significance (May 12, 2024)
11-9027478-C-T		not specified	Uncertain significance (Oct 26, 2022)
11-9027560-G-A			Likely benign (Dec 01, 2023)
11-9029916-A-G		not specified	Uncertain significance (Mar 21, 2024)
11-9029925-G-A		not specified	Uncertain significance (Apr 19, 2024)
11-9030003-C-T		not specified	Uncertain significance (Sep 12, 2023)
11-9030018-T-G		not specified	Uncertain significance (Dec 01, 2022)
11-9033742-C-T		Cerebral arteriovenous malformation	Likely pathogenic (Feb 14, 2018)
11-9047367-T-C		not specified	Likely benign (Oct 03, 2022)
11-9047368-C-T			Likely benign (Mar 01, 2022)
11-9047406-C-G		not specified	Uncertain significance (Dec 28, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP