Variant #0000262440 (NC_000023.10:g.112024239C>T, AMOT(NM_133265.2):c.1121G>A)

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.112024239C>T
DNA change (hg38) g.112781011C>T
Published as AMOT(NM_001113490.1):c.2348G>A (p.R783Q)
ISCN -
DB-ID AMOT_000010
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_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     
AMOT NM_133265.2 ?/. - c.1121G>A r.(?) p.(Arg374Gln)