Variant #0000573087 (NC_000023.10:g.112065919G>C, AMOT(NM_133265.2):c.-355-6814C>G)

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.112065919G>C
DNA change (hg38) g.112822691G>C
Published as AMOT(NM_001113490.1):c.436C>G (p.R146G)
ISCN -
DB-ID AMOT_000029
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_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.-355-6814C>G r.(=) p.(=)