Genomic variant #0000335216

Chromosome X
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.112022530G>A
DNA change (hg38) -
Published as AMOT(NM_001113490.1):c.2852C>T (p.(Ala951Val), p.(Ala542Val))
ISCN -
DB-ID AMOT_000005
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
AMOT NM_133265.2 ?/. - c.1625C>T VUS r.(?) p.(Ala542Val)