HELLPAR

HELLP associated long non-coding RNA, the group of Long non-coding RNAs with non-systematic symbols

Basic information

Region (hg38): 12:102197585-102402596

Links

ENSG00000281344 ∙ NCBI:101101692 ∙ OMIM:614985 ∙ HGNC:43984 ∙ ∙ ∙ 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 HELLPAR gene.

• Growth delay due to insulin-like growth factor type 1 deficiency (132 variants)
• not provided (6 variants)
• Intellectual disability (1 variants)
• not specified (1 variants)
• Inborn genetic diseases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the HELLPAR 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			98	16	23	137
Total	0	0	98	16	23

Variants in HELLPAR

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

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

Position	Type	Phenotype	Significance	ClinVar
12-102197709-C-A		not specified	Uncertain significance (Jun 30, 2022)
12-102395885-T-C		Growth delay due to insulin-like growth factor type 1 deficiency	Uncertain significance (Jan 12, 2018)
12-102395909-A-G		Growth delay due to insulin-like growth factor type 1 deficiency	Uncertain significance (Jan 12, 2018)
12-102395924-T-C		Growth delay due to insulin-like growth factor type 1 deficiency	Uncertain significance (Jan 12, 2018)
12-102396014-AGTC-TATTCAATTAGTTACATTTTAG		Growth delay due to insulin-like growth factor type 1 deficiency	Uncertain significance (Jun 14, 2016)
12-102396074-C-G		Growth delay due to insulin-like growth factor type 1 deficiency	Benign (Jan 12, 2018)
12-102396123-G-A		Growth delay due to insulin-like growth factor type 1 deficiency	Benign (Jan 13, 2018)
12-102396196-A-G		Growth delay due to insulin-like growth factor type 1 deficiency	Benign (Jan 12, 2018)
12-102396264-T-A		Growth delay due to insulin-like growth factor type 1 deficiency	Uncertain significance (Jan 12, 2018)
12-102396280-C-G		Growth delay due to insulin-like growth factor type 1 deficiency	Uncertain significance (Jan 12, 2018)
12-102396326-A-G		Growth delay due to insulin-like growth factor type 1 deficiency	Uncertain significance (Jan 13, 2018)
12-102396388-C-T		Growth delay due to insulin-like growth factor type 1 deficiency	Uncertain significance (Jan 12, 2018)
12-102396414-C-T		Growth delay due to insulin-like growth factor type 1 deficiency	Benign (Jan 12, 2018)
12-102396516-G-A		Growth delay due to insulin-like growth factor type 1 deficiency	Uncertain significance (Jan 13, 2018)
12-102396577-T-A		Growth delay due to insulin-like growth factor type 1 deficiency	Uncertain significance (Jan 13, 2018)
12-102396663-T-G		Growth delay due to insulin-like growth factor type 1 deficiency	Uncertain significance (Jan 12, 2018)
12-102396788-C-CT		Growth delay due to insulin-like growth factor type 1 deficiency	Benign (Jun 14, 2016)
12-102396837-G-A		Growth delay due to insulin-like growth factor type 1 deficiency	Uncertain significance (Jan 12, 2018)
12-102396969-G-A		Growth delay due to insulin-like growth factor type 1 deficiency	Uncertain significance (Jan 13, 2018)
12-102396974-G-A		Growth delay due to insulin-like growth factor type 1 deficiency	Uncertain significance (Jan 12, 2018)
12-102397002-A-T		Growth delay due to insulin-like growth factor type 1 deficiency	Benign (Jan 12, 2018)
12-102397058-C-T		Growth delay due to insulin-like growth factor type 1 deficiency	Uncertain significance (Jan 13, 2018)
12-102397175-C-A		Growth delay due to insulin-like growth factor type 1 deficiency	Uncertain significance (Jan 13, 2018)
12-102397175-C-T		Growth delay due to insulin-like growth factor type 1 deficiency	Uncertain significance (Jan 12, 2018)
12-102397218-A-T		Growth delay due to insulin-like growth factor type 1 deficiency	Uncertain significance (Jan 12, 2018)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP