Variant #0000668270 (NC_000023.10:g.12734235T>C, FRMPD4(NM_014728.3):c.1657T>C)

Individual ID 00303636
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.12734235T>C
DNA change (hg38) g.12716116T>C
Published as -
ISCN -
DB-ID FRMPD4_000050 See all 2 reported entries
Variant remarks -
Reference PubMed: Piard 2018
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Joaquin De La Torre Vela
Database submission license No license selected
Created by Joaquin De La Torre Vela
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FRMPD4 NM_014728.3 +/. - c.1657T>C r.(?) p.(Cys553Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000304764 DNA SEQ - - FRMPD4 1 Joaquin De La Torre Vela