Genomic variant #0000315722

Chromosome 17
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.36709067C>A
DNA change (hg38) -
Published as SRCIN1(NM_025248.2):c.2226G>T (p.K742N)
ISCN -
DB-ID SRCIN1_000003
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) 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.2226G>T VUS r.(?) p.(Lys742Asn)