Genomic variant #0000524760

Chromosome 5
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.148407060A>C
DNA change (hg38) -
Published as SH3TC2(NM_024577.3):c.2235T>G (p.A745=)
ISCN -
DB-ID SH3TC2_000085
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) 0.03414 View details
Owner VKGL-NL_AMC
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
SH3TC2 NM_024577.3 -/. - c.2235T>G benign r.(?) p.(=)