Variant #0000546827 (NC_000012.11:g.121416663G>A, HNF1A(NM_000545.5):c.92G>A)

Chromosome 12
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.121416663G>A
DNA change (hg38) g.120978860G>A
Published as HNF1A(NM_000545.5):c.92G>A (p.(Gly31Asp)), HNF1A(NM_001306179.1):c.92G>A (p.G31D)
ISCN -
DB-ID HNF1A_000164 See all 11 reported entries
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) 0.00075 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HNF1A NM_000545.5 ?/. - c.92G>A r.(?) p.(Gly31Asp)