Genomic variant #0000315948

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.47435581G>A
DNA change (hg38) -
Published as SYN1(NM_006950.3):c.1107C>T (p.I369=)
ISCN -
DB-ID SYN1_000001 See all 4 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) 0.00142 View details
Owner VKGL-NL_Rotterdam




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
ARAF NM_001256196.1 -?/. - c.*4725G>A likely benign r.(=) p.(=)
TIMP1 NM_003254.2 -?/. - c.-6301G>A likely benign r.(?) p.(=)
SYN1 NM_006950.3 -?/. - c.1107C>T likely benign r.(?) p.(=)