VWA5B1

von Willebrand factor A domain containing 5B1

Basic information

Region (hg38): 1:20290875-20359518

Links

ENSG00000158816 ∙ NCBI:127731 ∙ ∙ HGNC:26538 ∙ Uniprot:Q5TIE3 ∙ 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 VWA5B1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the VWA5B1 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				2		2
missense			99	4		103
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	99	6	0

Variants in VWA5B1

This is a list of pathogenic ClinVar variants found in the VWA5B1 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-20310648-C-G		not specified	Uncertain significance (Sep 22, 2023)
1-20310677-G-A		not specified	Uncertain significance (Apr 09, 2024)
1-20310720-T-C		not specified	Uncertain significance (Jun 13, 2024)
1-20312836-G-A		not specified	Uncertain significance (Dec 20, 2022)
1-20312843-C-A		not specified	Uncertain significance (Oct 27, 2021)
1-20312844-G-A		not specified	Uncertain significance (Jan 05, 2022)
1-20312856-G-T		not specified	Uncertain significance (May 29, 2024)
1-20312890-T-A		not specified	Uncertain significance (Feb 03, 2022)
1-20312902-G-A		not specified	Uncertain significance (May 26, 2023)
1-20312942-G-C		not specified	Uncertain significance (Jun 10, 2024)
1-20312946-G-C		not specified	Uncertain significance (Jul 12, 2023)
1-20314337-A-G		not specified	Uncertain significance (Jun 27, 2022)
1-20314390-G-A		not specified	Uncertain significance (May 15, 2023)
1-20314426-G-A		not specified	Uncertain significance (May 24, 2024)
1-20314466-G-A		not specified	Uncertain significance (Jul 26, 2021)
1-20314469-C-A		not specified	Uncertain significance (Jul 26, 2021)
1-20314498-G-A		not specified	Uncertain significance (Oct 03, 2023)
1-20314537-A-G		not specified	Uncertain significance (Jun 16, 2024)
1-20314539-C-T			Likely benign (Jul 01, 2022)
1-20314540-G-A		not specified	Uncertain significance (Aug 21, 2023)
1-20314568-G-A		not specified	Uncertain significance (Aug 17, 2021)
1-20317574-A-G		not specified	Uncertain significance (Apr 09, 2024)
1-20317598-T-C		not specified	Uncertain significance (Jun 06, 2023)
1-20317664-G-T		not specified	Uncertain significance (May 27, 2022)
1-20317672-G-A		not specified	Uncertain significance (Dec 18, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
VWA5B1	protein_coding	protein_coding	ENST00000375079	21	63976

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
9.14e-33	0.0000234	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.974	602	673	0.894	0.0000393	7873
Missense in Polyphen		159	192.21	0.82721		2306
Synonymous	2.00	249	293	0.851	0.0000184	2521
Loss of Function	-0.0172	49	48.9	1.00	0.00000272	564

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Essentials

• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.265

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High

Mouse Genome Informatics

• Gene name: Vwa5b1

Gene ontology

• Cellular component: extracellular region