F8 G474E (c.1421G>A)

Dante Labs

Variant

F8 G474E

NM_000132.4(F8):c.1421G>A (p.Gly474Glu)

Also known as

p.Gly474Glu
p.G474E

ClinVar classification: Pathogenic
Review status: 3 stars out of 4reviewed by expert panel
Last evaluated: 14 January 2025
Expert panel: ClinGen Coagulation Factor Deficiency Variant Curation Expert Panel, Clingen

Data current to ClinVar release 2026-10-12 · Dante Labs data release 2026.10.16-c6eea6bfFacts last changed 16 October 2026

Reference genomeGRCh38hg38

Positions on gene and variant pages follow this choice, in this browser.

Summary

G474E is a missense variant in F8: it changes a single amino acid in the protein the gene encodes. ClinVar classifies it as pathogenic for hemophilia A (reviewed by expert panel).

ClinVar classifications

Condition	Classification	Review status	Submissions	Last evaluated
hemophilia AClinVar VCV003775065 (opens in a new tab)	Pathogenic	3 stars out of 4reviewed by expert panel	1 submission	14 January 2025

Classifications as ClinVar records them in release 2026-10-12. ClinVar updates them as evidence is reviewed.

Where it lies in F8

G474E lies in exon 9 of the 26 in F8's MANE Select transcript, NM_000132.4.

F8 variants in exon 9 →F8's gene diagram →

Molecular details

Gene	F8
Transcript	NM_000132.4MANE Select
Coding DNA change (HGVS c.)	c.1421G>A
Protein change (HGVS p.)	p.Gly474Glup.G474E
Predicted consequence	Missensemissense_variant (opens in a new tab)
Predicted impact	Moderate
Position (GRCh38)	chrX:154965992 C>T
Position (GRCh37)	chrX:154194267 C>T
ClinVar Variation ID	VCV003775065 (opens in a new tab)
ClinVar Allele ID	3891214
ClinVar name	NM_000132.4(F8):c.1421G>A (p.Gly474Glu)

F8 G474E in other databases

Reports that look at this variant (1)

These Genome Test condition reports include G474E among the variants they look at.

Report	Conditions	Inheritance
Haemophilia	Hemophilia	X-linked recessive

All F8 variants

Limitations

This page describes publicly available information about a genetic variant. It is not a diagnosis, and it says nothing about whether you or anyone else carries this variant.

Classifications come from ClinVar and change as new evidence is reviewed. A classification here may differ from the one in ClinVar today, or from the one a laboratory reports.

Whole genome sequencing with short reads can miss or miscall some variants, particularly in repeated or highly similar stretches of DNA and in large insertions, deletions or rearrangements.

If you have questions about a variant in your own results or in your family, talk to a genetic counsellor or your doctor.

Sources & credits

Classifications from ClinVar (release 2026-10-12), National Center for Biotechnology Information.
Condition terms from the Mondo Disease Ontology (release 2026-10-06), used under CC BY 4.0.
Gene symbols and names from the HUGO Gene Nomenclature Committee (release 2026-10-16).
Allele identifiers from the ClinGen Allele Registry (release 2026-10-16-c4908f54).
Reference SNP identifiers from dbSNP (release b157), National Center for Biotechnology Information.
Gene–disease links from the Gene Curation Coalition, GenCC (release 2026-10-16).
Difficult regions from the Genome in a Bottle Consortium (release v3.6).
Transcripts from MANE (release v1.5), NCBI and EMBL-EBI.
Predicted consequences from mehari (release 0.11.0), with transcript models from cdot.
Built from Dante Labs data release 2026.10.16-c6eea6bf of 16 October 2026.

Cite this page

APA

Dante Labs. (16 October 2026). F8 G474E (c.1421G>A) (Version 2026.10.16-c6eea6bf). Retrieved 16 October 2026, from https://dantelabs.com/genes/f8/variants/g474e

Vancouver

Dante Labs. F8 G474E (c.1421G>A) [Internet]. Version 2026.10.16-c6eea6bf. 16 October 2026 [cited 16 October 2026]. Available from: https://dantelabs.com/genes/f8/variants/g474e

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