Variant #0000334508 (NC_000023.10:g.69458190C>T, AWAT1(NM_001013579.2):c.589C>T)

Chromosome X
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.69458190C>T
DNA change (hg38) g.70238340C>T
Published as AWAT1(NM_001013579.2):c.589C>T (p.(Leu197Phe))
ISCN -
DB-ID AWAT1_000006
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) 3.0E-5 View details
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     
AWAT1 NM_001013579.2 ?/. - c.589C>T r.(?) p.(Leu197Phe)