Genomic variant #0000314240

Chromosome X
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.47466549T>C
DNA change (hg38) -
Published as SYN1(NM_006950.3):c.426A>G (p.K142=)
ISCN -
DB-ID SYN1_000003 See all 3 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00038 View details
Owner VKGL-NL_Utrecht




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
ARAF NM_001256196.1 -?/. - c.*35693T>C likely benign r.(=) p.(=)
TIMP1 NM_003254.2 -?/. - c.*20459T>C likely benign r.(=) p.(=)
SYN1 NM_006950.3 -?/. - c.426A>G likely benign r.(?) p.(=)