Variant #0000334509 (NC_000023.10:g.69460051G>A, AWAT1(NM_001013579.2):c.898G>A)

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.69460051G>A
DNA change (hg38) g.70240201G>A
Published as AWAT1(NM_001013579.2):c.898G>A (p.(Ala300Thr))
ISCN -
DB-ID AWAT1_000007
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) 1.0E-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.898G>A r.(?) p.(Ala300Thr)