Genomic variant #0000608391

Chromosome 3
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.15645224A>C
DNA change (hg38) -
Published as -
ISCN -
DB-ID BTD_000148
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) Variant not found in online data sets
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
BTD NM_000060.2 +/. - c.44+1823A>C pathogenic r.(=) p.(=)
HACL1 NM_012260.2 +/. - c.-2254T>G pathogenic r.(?) p.(=)