Genomic variant #0000288164

Chromosome 14
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.88450770G>A
DNA change (hg38) -
Published as GALC(NM_000153.3):c.550C>T (p.R184C)
ISCN -
DB-ID GALC_000001 See all 13 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) 0.0418 View details
Owner VKGL-NL_Rotterdam




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
GALC NM_000153.3 -/. - c.550C>T benign r.(?) p.(Arg184Cys)