Variant #0000607352 (NC_000002.11:g.191109651G>A, HIBCH(NM_014362.3):c.853C>T)

Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.191109651G>A
DNA change (hg38) g.190244925G>A
Published as HIBCH(NM_014362.3):c.853C>T (p.Q285*)
ISCN -
DB-ID HIBCH_000009
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) 1.0E-5 View details
Owner VKGL-NL_Rotterdam
Database submission license No license selected
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HIBCH NM_014362.3 +/. - c.853C>T r.(?) p.(Gln285Ter)