Variant #0000277624 (NC_000003.11:g.57232504T>C, HESX1(NM_003865.2):c.374A>G)

Chromosome 3
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.57232504T>C
DNA change (hg38) g.57198476T>C
Published as HESX1(NM_003865.2):c.374A>G (p.N125S, p.(Asn125Ser)), HESX1(NM_003865.3):c.374A>G (p.N125S)
ISCN -
DB-ID HESX1_000001 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 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.0176 View details
Owner VKGL-NL_AMC
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_AMC
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HESX1 NM_003865.2 -/. - c.374A>G r.(?) p.(Asn125Ser)