Genomic variant #0000576140

Chromosome X
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.47433723G>A
DNA change (hg38) -
Published as SYN1(NM_006950.3):c.1660C>T (p.P554S)
ISCN -
DB-ID SYN1_000059
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
ARAF NM_001256196.1 ?/. - c.*2867G>A VUS r.(=) p.(=)
TIMP1 NM_003254.2 ?/. - c.-8159G>A VUS r.(?) p.(=)
SYN1 NM_006950.3 ?/. - c.1660C>T VUS r.(?) p.(Pro554Ser)