Variant #0000518367 (NC_000003.11:g.15677122G>A, BTD(NM_000060.2):c.236G>A)

Chromosome 3
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.15677122G>A
DNA change (hg38) g.15635615G>A
Published as BTD(NM_000060.4):c.236G>A (p.R79H)
ISCN -
DB-ID BTD_000053 See all 2 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
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.236G>A r.(?) p.(Arg79His)
HACL1 NM_012260.2 ?/. - c.-34152C>T r.(?) p.(=)