Variant #0000281300 (NC_000002.11:g.191161622T>C, HIBCH(NM_014362.3):c.136A>G)

Chromosome 2
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.191161622T>C
DNA change (hg38) g.190296896T>C
Published as HIBCH(NM_014362.3):c.136A>G (p.T46A)
ISCN -
DB-ID HIBCH_000002
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) 0.74588 View details
Owner VKGL-NL_Groningen
Database submission license No license selected
Created by VKGL-NL_Groningen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HIBCH NM_014362.3 -/. - c.136A>G r.(?) p.(Thr46Ala)