Genomic variant #0000254015

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.47466421A>C
DNA change (hg38) -
Published as SYN1(NM_006950.3):c.450T>G (p.D150E)
ISCN -
DB-ID SYN1_000044 See all 2 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) Variant not found in online data sets
Owner VKGL-NL_Rotterdam




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
ARAF NM_001256196.1 -?/. - c.*35565A>C likely benign r.(=) p.(=)
TIMP1 NM_003254.2 -?/. - c.*20331A>C likely benign r.(=) p.(=)
SYN1 NM_006950.3 -?/. - c.450T>G likely benign r.(?) p.(Asp150Glu)