Variant #0000620908 (NC_000002.11:g.191110938A>G, HIBCH(NM_014362.3):c.751T>C)

Chromosome 2
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.191110938A>G
DNA change (hg38) g.190246212A>G
Published as HIBCH(NM_014362.3):c.751T>C (p.S251P)
ISCN -
DB-ID HIBCH_000010
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) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Database submission license No license selected
Created by VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HIBCH NM_014362.3 ?/. - c.751T>C r.(?) p.(Ser251Pro)