HAFML

HuR (ELAVL1) associated fibroblast migratory lncRNA, the group of Long non-coding RNAs with non-systematic symbols

Basic information

Region (hg38): 4:176631958-176706145

Links

ENSG00000248388 ∙ NCBI:105377555 ∙ ∙ HGNC:56694 ∙ ∙ ∙ 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 HAFML gene.

• not provided (7 variants)
• Inborn genetic diseases (5 variants)
• not specified (4 variants)
• VEGFC-related condition (1 variants)
• Lymphatic malformation 4 (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the HAFML 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			6	2	9	17
Total	0	0	6	2	9

Variants in HAFML

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

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

Position	Type	Phenotype	Significance	ClinVar
4-176684019-C-T		VEGFC-related disorder	Likely benign (Sep 17, 2019)
4-176684029-C-T		VEGFC-related disorder	Uncertain significance (Apr 23, 2024)
4-176684030-G-A		not specified	Conflicting classifications of pathogenicity (May 04, 2022)
4-176686910-T-A			Benign (Nov 12, 2018)
4-176687209-T-G		not specified	Benign (May 04, 2022)
4-176687268-G-C		Inborn genetic diseases	Uncertain significance (Dec 27, 2023)
4-176687340-T-G		Inborn genetic diseases	Uncertain significance (Jun 09, 2022)
4-176687351-T-G		Inborn genetic diseases	Uncertain significance (Feb 14, 2023)
4-176687358-G-A		not specified	Benign (May 04, 2022)
4-176687380-C-A		Inborn genetic diseases	Uncertain significance (Jun 22, 2021)
4-176687419-C-A		VEGFC-related disorder	Uncertain significance (Feb 18, 2023)
4-176687434-G-A		Inborn genetic diseases	Uncertain significance (May 14, 2024)
4-176687452-C-A		Inborn genetic diseases	Uncertain significance (Jul 15, 2021)
4-176687472-T-C		Inborn genetic diseases	Uncertain significance (May 27, 2022)
4-176687621-T-C			Benign (Nov 12, 2018)
4-176687721-A-C			Benign (Jun 19, 2021)
4-176687827-C-T		not specified • Inborn genetic diseases	Conflicting classifications of pathogenicity (May 04, 2022)
4-176687851-C-T		Lymphatic malformation 4	Likely benign (Feb 02, 2022)
4-176687917-C-T		Inborn genetic diseases	Uncertain significance (Feb 06, 2024)
4-176688049-G-A			Benign (Nov 12, 2018)
4-176688105-C-T			Benign (Nov 12, 2018)
4-176688110-C-T			Benign (Nov 12, 2018)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP