Variant #0000609597 (NC_000005.9:g.150923186A>G, NM_001447.2:c.7502T>C (FAT2))

Chromosome 5
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.150923186A>G
DNA change (hg38) g.151543625A>G
Published as FAT2(NM_001447.2):c.7502T>C (p.I2501T)
ISCN -
DB-ID FAT2_000060
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_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 2020-03-23 16:13:27 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FAT2 NM_001447.2 ?/. - c.7502T>C r.(?) p.(Ile2501Thr)


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