Variant #0000982136 (NC_000016.9:g.86612732A>G, NM_005250.2:c.403A>G (FOXL1))

Chromosome 16
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.86612732A>G
DNA change (hg38) -
Published as FOXL1(NM_005250.3):c.403A>G (p.N135D)
ISCN -
DB-ID FOXL1_000002
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_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
Date created 2024-04-19 20:27:30 +02:00 (CEST)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FOXL1 NM_005250.2 ?/. - c.403A>G r.(?) p.(Asn135Asp)


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