Variant #0000400931 (NC_000023.10:g.12725701C>G, FRMPD4(NM_014728.3):c.1401C>G)

Individual ID 00173275
Chromosome X
Allele Parent #1
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.12725701C>G
DNA change (hg38) g.12707582C>G
Published as V467V
ISCN -
DB-ID FRMPD4_000047
Variant remarks recurrent, found 17 times
Reference PubMed: Tarpey 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 17/208 cases
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.19334 View details
Owner Lucy Raymond
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FRMPD4 NM_014728.3 -?/. 13 c.1401C>G r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000174158 DNA SEQ - - GLRA2 1 Lucy Raymond