F8 c.3180A>C ;(p.K1060N)

Variant ID: X-154158885-T-G

NM_000132.3(F8):c.3180A>C;(p.K1060N)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Identification of novel mutations in exon 14 of the f8 gene in malaysian patients with severe hemophilia a.

Indian Journal Of Clinical Biochemistry : Ijcb
Moses, Emmanuel Jairaj EJ; Ling, Sim Pei SP; Al-Hassan, Faisal Muti FM; Karim, Faraizah Abdul FA; Yusoff, Narazah Mohd NM
Publication Date: 2012-04

Variant appearance in text: FVIII: Lys1060Asn
PubMed Link: 23543988
Variant Present in the following documents:
  • Main text
View BVdb publication page