Variant #0000334353 (NC_000023.10:g.55650343C>G, FOXR2(NM_198451.3):c.199C>G)

Chromosome X
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.55650343C>G
DNA change (hg38) g.55623910C>G
Published as FOXR2(NM_198451.3):c.199C>G (p.(Pro67Ala))
ISCN -
DB-ID FOXR2_000002
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00157 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FOXR2 NM_198451.3 -?/. - c.199C>G r.(?) p.(Pro67Ala)