Genomic variant #0000224837

Individual ID 00133894
Chromosome 13
Allele Parent #1
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.23824791C>T
DNA change (hg38) g.23250652C>T
Published as -
ISCN -
DB-ID SGCG_000062 See all 2 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Ieke Ginjaar
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SGCG NM_000231.2 ?/. 4 c.320C>T r.(?) p.(Ser107Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000134732 DNA SSCA;SEQ - - SGCG 3 Ieke Ginjaar