Variant #0000249026 (NC_000003.11:g.15643043A>G, BTD(NM_000060.2):c.-315A>G)

Chromosome 3
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.15643043A>G
DNA change (hg38) g.15601536A>G
Published as HACL1(NM_012260.4):c.-73T>C
ISCN -
DB-ID BTD_000124
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) 0.95751 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BTD NM_000060.2 -/. - c.-315A>G r.(?) p.(=)
HACL1 NM_012260.2 -/. - c.-73T>C r.(?) p.(=)