Variant #0000271333 (NC_000023.10:g.154133273C>T, NM_000132.3:c.5399G>A (F8))

Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.154133273C>T
DNA change (hg38) g.154904998C>T
Published as F8(NM_000132.3):c.5399G>A (p.R1800H)
ISCN -
DB-ID F8_001402 See all 62 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
Date created 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2019-12-04 15:24:38 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
F8 NM_000132.3 +/. - c.5399G>A r.(?) p.(Arg1800His)
H2AFB1 NM_001017990.1 +/. - c.*19601C>T r.(=) p.(=)
F8A1 NM_012151.3 +/. - c.*17508C>T r.(=) p.(=)
FUNDC2 NM_023934.3 +/. - c.-121941C>T r.(?) p.(=)


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