Variant #0000537853 (NC_000009.11:g.27009023A>G, NM_001031689.2:c.-61980T>C (PLAA))

Chromosome 9
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.27009023A>G
DNA change (hg38) g.27009025A>G
Published as IFT74(NM_001099222.2):c.593A>G (p.E198G)
ISCN -
DB-ID IFT74_000014
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 2019-07-18 18:22:55 +02:00 (CEST)
Date last edited 2020-03-23 16:13:27 +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.-61980T>C r.(?) p.(=)
LRRC19 NM_022901.2 ?/. - c.-3443T>C r.(?) p.(=)
IFT74 NM_025103.2 ?/. - c.593A>G r.(?) p.(Glu198Gly)


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