Variant #0000274731 (NC_000023.10:g.77528515T>A, CYSLTR1(NM_006639.2):c.729A>T)

Chromosome X
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.77528515T>A
DNA change (hg38) g.78273018T>A
Published as CYSLTR1(NM_001282187.1):c.729A>T (p.L243F)
ISCN -
DB-ID CYSLTR1_000003
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) 8.0E-5 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CYSLTR1 NM_006639.2 -?/. - c.729A>T r.(?) p.(Leu243Phe)