Variant #0000996633 (NC_000007.13:g.72744255G>C, NM_003602.4:c.368G>C (FKBP6))

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.72744255G>C
DNA change (hg38) -
Published as FKBP6(NM_003602.4):c.368G>C (p.(Cys123Ser))
ISCN -
DB-ID TRIM50_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) 0.0001 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 2024-08-28 13:16:32 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FKBP6 NM_003602.4 -?/. - c.368G>C r.(?) p.(Cys123Ser)
TRIM50 NM_178125.2 -?/. - c.-2371C>G r.(?) p.(=)


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