Variant #0000800668 (NC_000002.11:g.45171847C>T, SIX3(NM_005413.3):c.947C>T)

Chromosome 2
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.45171847C>T
DNA change (hg38) -
Published as SIX3(NM_005413.3):c.947C>T (p.T316I), SIX3(NM_005413.4):c.947C>T (p.T316I)
ISCN -
DB-ID SIX3_000030 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) 0.00061 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     

Type/DNA     
SIX3 NM_005413.3 ?/. - c.947C>T r.(?) p.(Thr316Ile) -