LINC-PINT

long intergenic non-protein coding RNA, p53 induced transcript, the group of MicroRNA non-coding host genes

Basic information

Region (hg38): 7:130791264-131110176

Previous symbols: [ "MKLN1-AS1" ]

Links

∙ NCBI:378805 ∙ OMIM:618212 ∙ HGNC:26885 ∙ Uniprot:A0A455ZAR2 ∙ AlphaFold ∙ 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 LINC-PINT gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the LINC-PINT 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 LINC-PINT

This is a list of pathogenic ClinVar variants found in the LINC-PINT region.

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

Position	Phenotype	Significance	ClinVar
7-130944202-G-T	LINC-PINT-related disorder	Likely benign (Feb 03, 2022)	3032636
7-130984096-C-A	LINC-PINT-related disorder	Likely benign (Aug 02, 2022)	3036139
7-131002229-G-A	LINC-PINT-related disorder	Benign (Sep 20, 2019)	3059288
7-131106894-G-A	LINC-PINT-related disorder	Benign (Jul 26, 2019)	3059947
7-131108064-A-C	LINC-PINT-related disorder	Likely benign (Feb 26, 2023)	3052262

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Mouse Genome Informatics

Gene name: Lncpint
Phenotype: behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); skeleton phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); growth/size/body region phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); muscle phenotype;