Variant #0000690513 (NC_000009.11:g.26962087dup, NM_001031689.2:c.-15044dup (PLAA))

Chromosome 9
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.26962087dup
DNA change (hg38) -
Published as IFT74(NM_001349928.1):c.120+2dupT, IFT74(NM_025103.4):c.120+2dup, IFT74(NM_025103.4):c.120+2dupT
ISCN -
DB-ID IFT74_000023 See all 4 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) Retrieve
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2020-09-15 15:50:26 +02:00 (CEST)
Date last edited 2025-05-05 21:14:00 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PLAA NM_001031689.2 +/. - c.-15044dup r.(?) p.(=)
LRRC19 NM_022901.2 +/. - c.*33432dup r.(?) p.(=)
IFT74 NM_025103.2 +/. - c.120+2dup r.spl? p.?


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