Variant #0000245375 (NC_000002.11:g.191077780T>C, HIBCH(NM_014362.3):c.913A>G)

Individual ID 00151386
Chromosome 2
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.191077780T>C
DNA change (hg38) g.190213054T>C
Published as -
ISCN -
DB-ID HIBCH_000001
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner IMGAG
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by IMGAG
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HIBCH NM_014362.3 +?/. - c.913A>G r.(?) p.(Thr305Ala)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000152241 DNA SEQ - - - 1 IMGAG