Variant #0000530146 (NC_000007.13:g.102574655A>G, NC_000007.13(NM_145032.3):c.725-2275T>C (FBXL13))

Chromosome 7
Allele Unknown
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.102574655A>G
DNA change (hg38) g.102934208A>G
Published as LRRC17(NM_001031692.2):c.295A>G (p.(Asn99Asp))
ISCN -
DB-ID FBXL13_000001
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) 0.00072 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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     
NFE4 NM_001085386.1 -?/. - c.-39349A>G r.(?) p.(=)
LRRC17 NM_005824.2 -?/. - c.295A>G r.(?) p.(Asn99Asp)
FBXL13 NM_145032.3 -?/. - c.725-2275T>C r.(=) p.(=)


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