Genomic variant #0000295833

Chromosome 5
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.148386525T>C
DNA change (hg38) g.149006962T>C
Published as SH3TC2(NM_024577.3):c.3594A>G (p.P1198=)
ISCN -
DB-ID SH3TC2_000041
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.3594A>G r.(?) p.(Pro1198=)