Genomic variant #0000577790

Chromosome X
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.96139682G>A
DNA change (hg38) -
Published as RPA4(NM_013347.4):c.373G>A (p.V125I)
ISCN -
DB-ID DIAPH2_000027
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
DIAPH2 NM_006729.4 -?/. - c.587+2965G>A likely benign r.(=) p.(=)
RPA4 NM_013347.4 -?/. - c.373G>A likely benign r.(?) p.(Val125Ile)