Genomic variant #0000439733

Individual ID 00208532
Chromosome 5
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.148422281A>G
DNA change (hg38) -
Published as -
ISCN -
DB-ID SH3TC2_000024 See all 9 reported entries
Variant remarks no second variant detected in SH3TC2; reported in Lupski (2010) N Engl J Med 362: 1181 Lupski (2013) Genome Med 5: 57; Rudnik-Schöneborn 2016. Neuromuscul Disord 26: 132
Reference -
ClinVar ID -
dbSNP ID rs80359890
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00238 View details
Owner Andreas Laner
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
SH3TC2 NM_024577.3 ?/. - c.505T>C ACMG: 3 r.(?) p.Tyr169His



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000209580 DNA SEQ-NG - - - 1 Andreas Laner