Genomic variant #0000655323

Chromosome 5
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.148392248T>C
DNA change (hg38) g.149012685T>C
Published as SH3TC2(NM_024577.3):c.3103A>G (p.I1035V)
ISCN -
DB-ID SH3TC2_000109
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) 8.0E-5 View details
Owner VKGL-NL_AMC
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SH3TC2 NM_024577.3 ?/. - c.3103A>G r.(?) p.(Ile1035Val)