Variant #0000613506 (NC_000011.9:g.63978759C>T, NM_031471.5:c.527C>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.63978759C>T
DNA change (hg38) g.64211287C>T
Published as FERMT3(NM_031471.6):c.527C>T (p.A176V), FERMT3(NM_178443.2):c.527C>T (p.A176V)
ISCN -
DB-ID FERMT3_000022 See all 3 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) 0.00039 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2019-12-04 15:24:38 +01:00 (CET)
Date last edited 2023-07-07 10:10:56 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FERMT3 NM_031471.5 -?/. - c.527C>T r.(?) p.(Ala176Val)
TRPT1 NM_031472.3 -?/. - c.*12589G>A r.(=) p.(=)


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