Genomic variant #0000248737

Chromosome X
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.47466361A>G
DNA change (hg38) -
Published as SYN1(NM_006950.3):c.510T>C (p.N170=)
ISCN -
DB-ID SYN1_000004 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) 0.39828 View details
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
ARAF NM_001256196.1 -/. - c.*35505A>G benign r.(=) p.(=)
TIMP1 NM_003254.2 -/. - c.*20271A>G benign r.(=) p.(=)
SYN1 NM_006950.3 -/. - c.510T>C benign r.(?) p.(=)