Variant #0000272194 (NC_000003.11:g.15677121C>T, BTD(NM_000060.2):c.235C>T)

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.15677121C>T
DNA change (hg38) g.15635614C>T
Published as BTD(NM_000060.4):c.235C>T (p.R79C)
ISCN -
DB-ID BTD_000052 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 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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BTD NM_000060.2 +/. - c.235C>T r.(?) p.(Arg79Cys)
HACL1 NM_012260.2 +/. - c.-34151G>A r.(?) p.(=)