Variant #0000572873 (NC_000023.10:g.106845063C>T, FRMPD3(NM_032428.1):c.3893C>T)

Chromosome X
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.106845063C>T
DNA change (hg38) g.107601833C>T
Published as FRMPD3(NM_032428.2):c.3893C>T (p.T1298I)
ISCN -
DB-ID FRMPD3_000009
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) 0.00149 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     
FRMPD3 NM_032428.1 -?/. - c.3893C>T r.(?) p.(Thr1298Ile)