HSALR1

Basic information

Region (hg38): 16:88731180-88741425

Links

ENSG00000224888 ∙ ∙ ∙ HGNC:56095 ∙ ∙ ∙ 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 HSALR1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the HSALR1 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 HSALR1

This is a list of pathogenic ClinVar variants found in the HSALR1 region.

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

Position	Type	Phenotype	Significance	ClinVar
16-88731518-A-G			Benign (Jul 09, 2018)
16-88731574-G-C			Benign (Jul 10, 2018)
16-88731687-C-A			Benign (Feb 09, 2024)
16-88731694-C-T			Likely benign (Apr 06, 2022)
16-88731699-C-G			Uncertain significance (May 01, 2025)
16-88731711-C-A		Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema;Lymphatic malformation 6 • Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema	Likely pathogenic (Oct 05, 2021)
16-88731718-C-A		Inborn genetic diseases	Uncertain significance (Oct 08, 2024)
16-88731719-C-T		PIEZO1-related disorder	Likely benign (Mar 01, 2025)
16-88731721-G-C		not specified • Inborn genetic diseases • Lymphatic malformation 6;Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema	Uncertain significance (Mar 06, 2025)
16-88731723-G-A		PIEZO1-related disorder	Uncertain significance (Nov 15, 2022)
16-88731731-C-G			Likely benign (Dec 31, 2018)
16-88731748-G-A		Lymphatic malformation 6	Likely pathogenic (Dec 02, 2022)
16-88731748-G-C		Inborn genetic diseases	Uncertain significance (Sep 29, 2023)
16-88731749-G-A		PIEZO1-related disorder	Likely benign (Dec 08, 2017)
16-88731764-C-T		PIEZO1-related disorder	Likely benign (Jan 25, 2022)
16-88731765-G-A		Inborn genetic diseases	Conflicting classifications of pathogenicity (Feb 01, 2024)
16-88731766-C-T		Inborn genetic diseases	Likely benign (Feb 22, 2025)
16-88731773-G-A		Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema;Lymphatic malformation 6	Benign/Likely benign (Nov 16, 2023)
16-88731795-C-T		Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema • Lymphatic malformation 6 • Inborn genetic diseases	Uncertain significance (Nov 11, 2024)
16-88731796-G-A			Uncertain significance (Mar 03, 2021)
16-88731806-C-G			Uncertain significance (Mar 20, 2023)
16-88731810-C-T			Uncertain significance (Aug 30, 2024)
16-88731819-C-T		Inborn genetic diseases	Uncertain significance (Mar 15, 2024)
16-88731820-G-A			Uncertain significance (Jun 12, 2024)
16-88731820-G-C		Inborn genetic diseases	Uncertain significance (Nov 26, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP