Genomic variant #0000510240

Chromosome 2
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.171573045G>C
DNA change (hg38) -
Published as SP5(NM_001003845.2):c.328G>C (p.E110Q)
ISCN -
DB-ID SP5_000001
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




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
SP5 NM_001003845.2 ?/. - c.328G>C VUS r.(?) p.(Glu110Gln)