Variant #0000255909 (NC_000003.11:g.15683563A>G, BTD(NM_000060.2):c.458A>G)

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.15683563A>G
DNA change (hg38) g.15642056A>G
Published as BTD(NM_000060.4):c.458A>G (p.E153G)
ISCN -
DB-ID BTD_000127
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 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.458A>G r.(?) p.(Glu153Gly)
HACL1 NM_012260.2 ?/. - c.-40593T>C r.(?) p.(=)