Variant #0000272198 (NC_000003.11:g.15685842G>C, BTD(NM_000060.2):c.479G>C)

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.15685842G>C
DNA change (hg38) g.15644335G>C
Published as BTD(NM_000060.4):c.479G>C (p.C160S)
ISCN -
DB-ID BTD_000128
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.479G>C r.(?) p.(Cys160Ser)
HACL1 NM_012260.2 ?/. - c.-42872C>G r.(?) p.(=)