Genomic variant #0000393220

Individual ID 00172480
Chromosome X
Allele Parent #1
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.47444663C>T
DNA change (hg38) g.47585264C>T
Published as P87P
ISCN -
DB-ID SYN1_000048
Variant remarks recurrent, found 2 times
Reference PubMed: Tarpey 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 2/208 cases
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.016 View details
Owner Lucy Raymond
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TIMP1 NM_003254.2 -?/. - c.261C>T r.(=) p.(=)
SYN1 NM_006950.3 ./. - c.775-7763G>A r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000173363 DNA SEQ - - TIMP1 1 Lucy Raymond