Genomic variant #0000573496

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.129205367G>T
DNA change (hg38) -
Published as ELF4(NM_001127197.1):c.560C>A (p.(Thr187Asn))
ISCN -
DB-ID ELF4_000020
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) 0.00028 View details
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
ELF4 NM_001421.3 -?/. - c.560C>A likely benign r.(?) p.(Thr187Asn)