Variant #0000173005 (NC_000023.10:g.47466549T>C, SYN1(NM_006950.3):c.426A>G)

Individual ID 00106764
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.47466549T>C
DNA change (hg38) g.47607150T>C
Published as K142K
ISCN -
DB-ID SYN1_000003 See all 3 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) 0.00038 View details
Owner Lucy Raymond
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SYN1 NM_006950.3 -?/. 2 c.426A>G r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000107235 DNA SEQ - - SYN1 1 Lucy Raymond