Variant #0000248839 (NC_000002.11:g.191184475A>G, HIBCH(NM_014362.3):c.2T>C)

Chromosome 2
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.191184475A>G
DNA change (hg38) g.190319749A>G
Published as HIBCH(NM_014362.3):c.2T>C (p.M1?)
ISCN -
DB-ID HIBCH_000004
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.51357 View details
Owner VKGL-NL_Groningen
Database submission license No license selected
Created by VKGL-NL_Groningen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HIBCH NM_014362.3 -/. - c.2T>C r.(?) p.(Met1?)