Variant #0000283452 (NC_000009.11:g.27062721C>T, NM_001031689.2:c.-115678G>A (PLAA))

Chromosome 9
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.27062721C>T
DNA change (hg38) g.27062723C>T
Published as IFT74(NM_001099222.3):c.1790C>T (p.T597I)
ISCN -
DB-ID IFT74_000008
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) 0.12005 View details
Owner VKGL-NL_VUmc
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_VUmc
Date created 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2023-01-11 15:44:22 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PLAA NM_001031689.2 -/. - c.-115678G>A r.(?) p.(=)
LRRC19 NM_022901.2 -/. - c.-57141G>A r.(?) p.(=)
IFT74 NM_025103.2 -/. - c.1790C>T r.(?) p.(Thr597Ile)


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