Variant #0000272205 (NC_000003.11:g.15686014T>A, BTD(NM_000060.2):c.651T>A)

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.15686014T>A
DNA change (hg38) g.15644507T>A
Published as BTD(NM_000060.4):c.651T>A (p.F217L)
ISCN -
DB-ID BTD_000131
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.651T>A r.(?) p.(Phe217Leu)
HACL1 NM_012260.2 ?/. - c.-43044A>T r.(?) p.(=)