Variant #0000890028 (NC_000011.9:g.63978190C>T, NM_031471.5:c.268C>T (FERMT3))

Chromosome 11
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.63978190C>T
DNA change (hg38) -
Published as FERMT3(NM_031471.6):c.268C>T (p.R90C), FERMT3(NM_178443.2):c.268C>T (p.R90C)
ISCN -
DB-ID FERMT3_000002 See all 2 reported entries
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) 0.00019 View details
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
Date created 2022-11-01 13:01:21 +01:00 (CET)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FERMT3 NM_031471.5 -?/. - c.268C>T r.(?) p.(Arg90Cys)
TRPT1 NM_031472.3 -?/. - c.*13158G>A r.(=) p.(=)


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