Variant #0000516050 (NC_000002.11:g.45169449G>A, SIX3(NM_005413.3):c.206G>A)

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.45169449G>A
DNA change (hg38) g.44942310G>A
Published as SIX3(NM_005413.3):c.206G>A (p.G69D), SIX3(NM_005413.4):c.206G>A (p.G69D)
ISCN -
DB-ID SIX3_000011 See all 2 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) 0.0001 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Type/DNA     
SIX3 NM_005413.3 -?/. - c.206G>A r.(?) p.(Gly69Asp) -