Genomic variant #0000393223

Individual ID 00172483
Chromosome X
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.47446041G>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID SYN1_000050 See all 2 reported entries
Variant remarks found once, nonrecurrent change
Reference PubMed: Tarpey 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/208 cases
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00208 View details
Owner Lucy Raymond




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
TIMP1 NM_003254.2 ?/. - c.575G>A - r.(?) p.(Arg192Gln)
SYN1 NM_006950.3 ./. - c.775-9141C>T - r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000173366 DNA SEQ - - TSPAN6 1 Lucy Raymond