Variant #0000858846 (NC_000003.11:g.15677059A>G, BTD(NM_000060.2):c.173A>G)

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.15677059A>G
DNA change (hg38) -
Published as BTD(NM_001281723.3):c.113A>G (p.Y38C)
ISCN -
DB-ID BTD_000156
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) Variant not found in online data sets
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BTD NM_000060.2 +/. - c.173A>G r.(?) p.(Tyr58Cys)
HACL1 NM_012260.2 +/. - c.-34089T>C r.(?) p.(=)