Variant #0000287942 (NC_000023.10:g.106844808G>A, FRMPD3(NM_032428.1):c.3638G>A)

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.106844808G>A
DNA change (hg38) g.107601578G>A
Published as FRMPD3(NM_032428.2):c.3638G>A (p.R1213Q)
ISCN -
DB-ID FRMPD3_000007
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) 0.00031 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FRMPD3 NM_032428.1 -?/. - c.3638G>A r.(?) p.(Arg1213Gln)