Variant #0000272197 (NC_000003.11:g.15685833G>A, BTD(NM_000060.2):c.470G>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.15685833G>A
DNA change (hg38) g.15644326G>A
Published as BTD(NM_000060.4):c.470G>A (p.R157H)
ISCN -
DB-ID BTD_000073 See all 6 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) 0.00011 View details
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.470G>A r.(?) p.(Arg157His)
HACL1 NM_012260.2 +/. - c.-42863C>T r.(?) p.(=)