Variant #0000295822 (NC_000005.9:g.148406615G>A, SH3TC2(NM_024577.3):c.2680C>T)

Chromosome 5
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.148406615G>A
DNA change (hg38) g.149027052G>A
Published as SH3TC2(NM_024577.3):c.2680C>T (p.P894S)
ISCN -
DB-ID SH3TC2_000060
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_AMC
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SH3TC2 NM_024577.3 +/. - c.2680C>T r.(?) p.(Pro894Ser)