Variant #0000285941 (NC_000001.10:g.226125385G>A, LEFTY2(NM_003240.3):c.857C>T)

Chromosome 1
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.226125385G>A
DNA change (hg38) g.225937685G>A
Published as LEFTY2(NM_001172425.1):c.755C>T (p.(Pro252Leu)), LEFTY2(NM_003240.4):c.857C>T (p.P286L), LEFTY2(NM_003240.5):c.857C>T (p.P286L)
ISCN -
DB-ID LEFTY2_000003 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 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.0406 View details
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
LEFTY2 NM_003240.3 -?/. - c.857C>T r.(?) p.(Pro286Leu)