Variant #0000650613 (NC_000002.11:g.45169352G>T, SIX3(NM_005413.3):c.109G>T)

Individual ID 00292756
Chromosome 2
Allele Parent #1
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.45169352G>T
DNA change (hg38) g.44942213G>T
Published as -
ISCN -
DB-ID SIX3_000033 See all 2 reported entries
Variant remarks 1 heterozygous, no homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs199823175
Origin Germline
Segregation -
Frequency 1/2794 individuals
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00127 View details
Owner Mohammed Faruq
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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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.109G>T r.(?) p.(Gly37Cys) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000293924 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq