Variant #0000801060 (NC_000003.11:g.15677148C>G, BTD(NM_000060.2):c.262C>G)

Chromosome 3
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.15677148C>G
DNA change (hg38) -
Published as BTD(NM_001281723.3):c.202C>G (p.Q68E), BTD(NM_001323582.1):c.202C>G (p.Q68E)
ISCN -
DB-ID BTD_000125 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) 0.00188 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.262C>G r.(?) p.(Gln88Glu)
HACL1 NM_012260.2 -?/. - c.-34178G>C r.(?) p.(=)