Genomic variant #0000576146

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.47445978C>T
DNA change (hg38) -
Published as TIMP1(NM_003254.2):c.512C>T (p.(Thr171Met))
ISCN -
DB-ID SYN1_000064
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) 0.00028 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.*15122C>T likely benign r.(=) p.(=)
TIMP1 NM_003254.2 -?/. - c.512C>T likely benign r.(?) p.(Thr171Met)
SYN1 NM_006950.3 -?/. - c.775-9078G>A likely benign r.(=) p.(=)