Variant #0000284348 (NC_000009.11:g.14857740T>C, FREM1(NM_144966.5):c.639A>G)

Chromosome 9
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.14857740T>C
DNA change (hg38) g.14857742T>C
Published as FREM1(NM_144966.5):c.639A>G (p.R213=)
ISCN -
DB-ID FREM1_000111
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.03141 View details
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FREM1 NM_144966.5 -/. - c.639A>G r.(?) p.(Arg213=)