VWA7

von Willebrand factor A domain containing 7

Basic information

Region (hg38): 6:31765590-31777328

Previous symbols: [ "C6orf27" ]

Links

ENSG00000204396 ∙ NCBI:80737 ∙ OMIM:609693 ∙ HGNC:13939 ∙ Uniprot:Q9Y334 ∙ 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 VWA7 gene.

• not_specified (111 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the VWA7 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000025258.3. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			1	1		2
missense			111	4		115
nonsense			2			2
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1			1
Total	0	0	115	5	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
VWA7	protein_coding	protein_coding	ENST00000375688	16	11742

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.31e-11	0.964	112459	327	12962	125748	0.0543

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.01	449	514	0.874	0.0000302	5644
Missense in Polyphen		137	176.13	0.77781		2098
Synonymous	1.79	185	219	0.846	0.0000130	1989
Loss of Function	2.20	23	37.6	0.612	0.00000217	363

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0618	0.0582
Ashkenazi Jewish	0.0128	0.0118
East Asian	0.00565	0.00551
Finnish	0.172	0.153
European (Non-Finnish)	0.0738	0.0669
Middle Eastern	0.00565	0.00551
South Asian	0.0355	0.0308
Other	0.0613	0.0549

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 0.85
• rvis_percentile_EVS: 88.48

Haploinsufficiency Scores

• pHI: 0.0798
• hipred: N
• hipred_score: 0.432
• ghis: 0.499

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Vwa7

Gene ontology

• Biological process: biological_process
• Cellular component: cellular_component;extracellular region
• Molecular function: molecular_function