Genomic variant #0000561197

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.36707616G>C
DNA change (hg38) -
Published as SRCIN1(NM_025248.2):c.2737C>G (p.(Arg913Gly))
ISCN -
DB-ID SRCIN1_000004
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     
SRCIN1 NM_025248.2 -?/. - c.2737C>G likely benign r.(?) p.(Arg913Gly)