Genomic variant #0000524763

Chromosome 5
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.148407892del
DNA change (hg38) -
Published as SH3TC2(NM_024577.3):c.1407delC (p.I470Yfs*54)
ISCN -
DB-ID SH3TC2_000088
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_AMC
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
SH3TC2 NM_024577.3 +?/. - c.1407del likely pathogenic r.(?) p.(Ile470Tyrfs*54)