Genomic variant #0000573079

Chromosome X
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.112022442_112022459del
DNA change (hg38) -
Published as AMOT(NM_001113490.1):c.2933_2950del (p.(Pro978_Ala983del), p.(Pro569_Ala574del))
ISCN -
DB-ID AMOT_000022
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
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.1706_1723del likely benign r.(?) p.(Pro569_Ala574del)