Genomic variant #0000315723

Chromosome 17
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.36709027C>T
DNA change (hg38) -
Published as SRCIN1(NM_025248.2):c.2266G>A (p.G756S)
ISCN -
DB-ID SRCIN1_000002
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) 0.00016 View details
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
SRCIN1 NM_025248.2 ?/. - c.2266G>A VUS r.(?) p.(Gly756Ser)