Variant #0000272196 (NC_000003.11:g.15683529C>A, BTD(NM_000060.2):c.424C>A)

Chromosome 3
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.15683529C>A
DNA change (hg38) g.15642022C>A
Published as BTD(NM_000060.4):c.424C>A (p.P142T)
ISCN -
DB-ID BTD_000126
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BTD NM_000060.2 +/. - c.424C>A r.(?) p.(Pro142Thr)
HACL1 NM_012260.2 +/. - c.-40559G>T r.(?) p.(=)