Variant #0000677071 (NC_000003.11:g.57232493C>T, HESX1(NM_003865.2):c.385G>A)

Chromosome 3
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.57232493C>T
DNA change (hg38) -
Published as HESX1(NM_003865.2):c.385G>A (p.V129I, p.(Val129Ile))
ISCN -
DB-ID HESX1_000012 See all 3 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) 0.00079 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HESX1 NM_003865.2 -?/. - c.385G>A r.(?) p.(Val129Ile)