Genomic variant #0000345870

Chromosome 1
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.15772101G>A
DNA change (hg38) -
Published as CTRC(NM_00727.2):c.649G>A (p.Gly217Ser)
ISCN -
DB-ID CTRC_000001
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) 8.0E-5 View details
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
CTRC NM_007272.2 +?/. - c.649G>A likely pathogenic r.(?) p.(Gly217Ser)