Variant #0000505711 (NC_000001.10:g.226127681G>T, LEFTY2(NM_003240.3):c.272C>A)

Chromosome 1
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.226127681G>T
DNA change (hg38) g.225939981G>T
Published as LEFTY2(NM_001172425.1):c.272C>A (p.(Ala91Glu))
ISCN -
DB-ID LEFTY2_000013
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) Variant not found in online data sets
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
LEFTY2 NM_003240.3 ?/. - c.272C>A r.(?) p.(Ala91Glu)