Variant #0000718355 (NC_000002.11:g.191161686A>G, HIBCH(NM_014362.3):c.79-7T>C)

Chromosome 2
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.191161686A>G
DNA change (hg38) -
Published as HIBCH(NM_014362.3):c.79-7T>C
ISCN -
DB-ID HIBCH_000013
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) 0.00022 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.79-7T>C r.(=) p.(=)