Genomic variant #0000342172

Chromosome X
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.47464726G>A
DNA change (hg38) -
Published as SYN1(NM_006950.3):c.580C>T (p.R194C, p.(Arg194Cys))
ISCN -
DB-ID SYN1_000042 See all 5 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) 9.0E-5 View details
Owner VKGL-NL_Nijmegen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
ARAF NM_001256196.1 ?/. - c.*33870G>A VUS r.(=) p.(=)
TIMP1 NM_003254.2 ?/. - c.*18636G>A VUS r.(=) p.(=)
SYN1 NM_006950.3 ?/. - c.580C>T VUS r.(?) p.(Arg194Cys)