Genomic variant #0000316619

Chromosome X
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.47446020G>A
DNA change (hg38) g.47586621G>A
Published as TIMP1(NM_003254.2):c.554G>A (p.R185H)
ISCN -
DB-ID SYN1_000037
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) 0.00019 View details
Owner VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ARAF NM_001256196.1 -?/. - c.*15164G>A r.(=) p.(=)
TIMP1 NM_003254.2 -?/. - c.554G>A r.(?) p.(Arg185His)
SYN1 NM_006950.3 -?/. - c.775-9120C>T r.(=) p.(=)