Variant #0000289433 (NC_000003.11:g.129170742T>C, IFT122(NM_052985.2):c.109-15T>C)

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.129170742T>C
DNA change (hg38) g.129451899T>C
Published as IFT122(NM_052985.3):c.109-15T>C, IFT122(NM_052985.4):c.109-15T>C
ISCN -
DB-ID IFT122_000010 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) 0.02303 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     
IFT122 NM_052985.2 -/. - c.109-15T>C r.(=) p.(=)