F8A1

protein-coding

coagulation factor VIII associated 1

Gene summary

This gene is contained entirely within intron 22 of the factor VIII gene; spans less than 2 kb, and is transcribed in the direction opposite of factor VIII. A portion of intron 22 (int22h), containing F8A, is repeated twice extragenically closer to the Xq telomere. Although its function is unknown, the observation that this gene is conserved in the mouse implies it has some function. Unlike factor VIII, this gene is transcribed abundantly in a wide variety of cell types. [provided by RefSeq, Jul 2008]

Previous symbols:

MANE transcript

NM_012151.4

Inheritance

—

ClinVar variants

U:9B:2

Top phenotype

Hereditary factor VIII deficiency disease

Max pathogenic AF

—

Genomic locus

chrX:154,886,355-154,888,061

External References & Databases

Ensembl (ENSG00000288722)

Transcript & Mutation Effects

hg38 • Region Span ~1.7 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to F8A1 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 9

not providedTotal: 1

Hereditary factor VIII deficiency diseaseTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_012151.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar		1
missense			9 clinvar	1 clinvar		10
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	9	2	0	11

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 2 of 2 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_012151.4	RefSeq	NP_036283.2	1	MANE Select
ENST00000610495.2	Ensembl	ENSP00000479624.1	1	MANE Select