Variant #0000522294 (NC_000004.11:g.187541379T>C, NM_005245.3:c.6361A>G (FAT1))

Chromosome 4
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.187541379T>C
DNA change (hg38) g.186620225T>C
Published as FAT1(NM_005245.3):c.6361A>G (p.K2121E), FAT1(NM_005245.4):c.6361A>G (p.K2121E)
ISCN -
DB-ID FAT1_000040 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) 0.0005 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 2019-07-18 18:22:55 +02:00 (CEST)
Date last edited 2022-11-01 13:01:21 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FAT1 NM_005245.3 -?/. - c.6361A>G r.(?) p.(Lys2121Glu)


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