Variant #0000436538 (NC_000002.11:g.191114366C>T, HIBCH(NM_014362.3):c.750G>A)

Individual ID 00205864
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.191114366C>T
DNA change (hg38) g.190249640C>T
Published as -
ISCN -
DB-ID HIBCH_000005
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Jinliang Li
Database submission license No license selected
Created by Jinliang Li
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HIBCH NM_014362.3 +/. - c.750G>A r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000206894 DNA SEQ;SEQ-NG-I Peripheral blood - HIBCH 2 Jinliang Li