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F8 c.232T>C ;(p.F78L)
Variant ID: X-154227787-A-G
NM_000132.3(
F8
):c.232T>C;(p.F78L)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Systematic review and meta-analysis of genomic alterations in acral melanoma.
Pigment Cell & Melanoma Research
Broit, Natasa N; Johansson, Peter A PA; Rodgers, Chloe B CB; Walpole, Sebastian T ST; Hayward, Nicholas K NK; Pritchard, Antonia L AL
Publication Date: 2022-05
Variant appearance in text: F8: 232T>C; Phe78Leu
PubMed Link:
35229492
Variant Present in the following documents:
PCMR-35-369-s003.xlsx, sheet 6
View BVdb publication page
Identification of deep intronic individual variants in patients with hemophilia A by next-generation sequencing of the whole factor VIII gene.
Research And Practice In Thrombosis And Haemostasis
Inaba, Hiroshi H; Shinozawa, Keiko K; Amano, Kagehiro K; Fukutake, Katsuyuki K
Publication Date: 2017-10
Variant appearance in text: F8: 232T>C; Phe78Leu
PubMed Link:
30046696
Variant Present in the following documents:
Main text
RTH2-1-264.pdf
View BVdb publication page