Genomic variant #0000306929

Chromosome 17
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.73624375C>T
DNA change (hg38) -
Published as RECQL5(NM_004259.6):c.2728G>A (p.V910I)
ISCN -
DB-ID RECQL5_000044 See all 2 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 8.0E-5 View details
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
SMIM5 NM_001162995.2 -?/. - c.-5944C>T likely benign r.(?) p.(=)
SMIM6 NM_001162997.1 -?/. - c.-18498C>T likely benign r.(?) p.(=)
RECQL5 NM_004259.6 -?/. - c.2728G>A likely benign r.(?) p.(Val910Ile)